pathogenic variants - Robuta Search

https://www.ncbi.nlm.nih.gov/books/NBK1388/table/fhm.T.familial_hemiplegic_migraine_notab/?report=objectonly Table 8. [Familial Hemiplegic Migraine: Notable Pathogenic Variants by Gene]. - GeneReviews® - NCBI... Familial Hemiplegic Migraine: Notable Pathogenic Variants by Gene table 8 hemiplegic migraine pathogenic variants familial notable https://www.ncbi.nlm.nih.gov/books/NBK1513/table/ccd.T.notable_runx2_pathogenic_variants/?report=objectonly Table 6. [Notable RUNX2 Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf Notable RUNX2 Pathogenic Variants table 6 pathogenic variants ncbi bookshelf notable https://www.ncbi.nlm.nih.gov/books/NBK1355/table/myotonia-c.T.notable_clcn1_pathogenic_va/?report=objectonly Table 4. [Notable CLCN1 Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf Notable CLCN1 Pathogenic Variants table 4 pathogenic variants ncbi bookshelf notable https://www.ncbi.nlm.nih.gov/books/NBK84399/table/prss1-hp.T.prss1_pathogenic_variants_ref/?report=objectonly Table 2. [PRSS1 Pathogenic Variants Referenced in This GeneReview]. - GeneReviews® - NCBI Bookshelf PRSS1 Pathogenic Variants Referenced in This GeneReview table 2 pathogenic variants ncbi bookshelf referenced genereview https://www.ncbi.nlm.nih.gov/books/NBK1419/table/abs.T.por_pathogenic_variants_discussed/?report=objectonly Table 3. [POR Pathogenic Variants Discussed in This GeneReview]. - GeneReviews® - NCBI Bookshelf POR Pathogenic Variants Discussed in This GeneReview table 3 pathogenic variants ncbi bookshelf por discussed https://www.ncbi.nlm.nih.gov/books/NBK1108/table/alps.T.selected_casp10_pathogenic_varian/?report=objectonly Table 3. [Selected CASP10 Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf Selected CASP10 Pathogenic Variants table 3 pathogenic variants ncbi bookshelf selected https://www.ncbi.nlm.nih.gov/books/NBK395611/table/tubb4a-leuk.T.tubb4a_pathogenic_variants/?report=objectonly Table 7. [TUBB4A Pathogenic Variants Referenced in This GeneReview]. - GeneReviews® - NCBI Bookshelf TUBB4A Pathogenic Variants Referenced in This GeneReview table 7 pathogenic variants ncbi bookshelf referenced genereview https://www.ncbi.nlm.nih.gov/books/NBK589232/table/rnu4atac-dis.T.notable_rnu4atac_pathogen/?report=objectonly Table 11. [Notable RNU4ATAC Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf Notable RNU4ATAC Pathogenic Variants table 11 pathogenic variants ncbi bookshelf notable https://www.ncbi.nlm.nih.gov/books/NBK1527/table/cpt1a.T.cpt1a_pathogenic_variants_refere/?report=objectonly Table 8. [CPT1A Pathogenic Variants Referenced in This GeneReview]. - GeneReviews® - NCBI Bookshelf CPT1A Pathogenic Variants Referenced in This GeneReview table 8 pathogenic variants ncbi bookshelf referenced genereview https://www.ncbi.nlm.nih.gov/books/NBK1241/table/aved.T.notable_ttpa_pathogenic_variants/?report=objectonly Table 3. [Notable TTPA Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf Notable TTPA Pathogenic Variants table 3 pathogenic variants ncbi bookshelf notable https://www.ncbi.nlm.nih.gov/books/NBK148668/table/mps4a.T.notable_galns_pathogenic_variant/?report=objectonly Table 4. [Notable GALNS Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf Notable GALNS Pathogenic Variants table 4 pathogenic variants ncbi bookshelf notable https://www.ncbi.nlm.nih.gov/books/NBK583038/table/pi4ka.T.notable_pi4ka_pathogenic_variant/?report=objectonly Table 7. [Notable PI4KA Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf Notable PI4KA Pathogenic Variants table 7 pathogenic variants ncbi bookshelf notable https://pubmed.ncbi.nlm.nih.gov/29678161/ An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene... Analogous to other countries, SCADD is not included in the newborn screening programme. Based on the exceeded levels of the specific biomarker C4-acylcarnitine... unusually high pathogenic variants frequency scad deficiency https://www.ncbi.nlm.nih.gov/books/NBK5191/def-item/targeted-analysis-for-pathogenic-variants/ targeted analysis for pathogenic variants - GeneReviews® - NCBI Bookshelf pathogenic variants ncbi bookshelf targeted analysis https://www.ncbi.nlm.nih.gov/books/NBK1357/table/nkh.T.notable_pathogenic_variants_in_gen/?report=objectonly Table 5. [Notable Pathogenic Variants in Genes Causing Nonketotic Hyperglycinemia]. - GeneReviews®... Notable Pathogenic Variants in Genes Causing Nonketotic Hyperglycinemia table 5 pathogenic variants notable genes causing https://www.ncbi.nlm.nih.gov/books/NBK1507/table/costello.T.hras_pathogenic_variants_refe/?report=objectonly Table 8. [HRAS Pathogenic Variants Referenced in This GeneReview]. - GeneReviews® - NCBI Bookshelf HRAS Pathogenic Variants Referenced in This GeneReview table 8 pathogenic variants ncbi bookshelf hras referenced https://www.ncbi.nlm.nih.gov/books/NBK169615/table/bgd-biotin.T.slc19a3_pathogenic_variants/?report=objectonly Table 6. [SLC19A3 Pathogenic Variants Referenced in This GeneReview]. - GeneReviews® - NCBI... SLC19A3 Pathogenic Variants Referenced in This GeneReview table 6 pathogenic variants referenced genereview ncbi https://www.broadinstitute.org/publications/broad1364731 Pathogenic Cardiomyopathy-Associated Gene Variants and Prognosis in Atrial Fibrillation: Results in... gene variants atrial fibrillation pathogenic cardiomyopathy associated