https://pure.eur.nl/en/publications/yield-of-lynch-syndrome-surveillance-for-patients-with-pathogenic/
Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair...
dna mismatch repairlynch syndromefor patientspathogenic variantsyield
https://www.moalmanac.org/biomarkers/bmkr:7
CDK12 pathogenic variants | Molecular Oncology Almanac
pathogenic variantsmolecular oncologyalmanac
https://gp2.org/research-outputs/parkinsons-disease-pathogenic-variants-cross-ancestry-analysis-and-microarray-data-validation/
Parkinson’s Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation -...
pathogenic variantsdata validationdiseasecrossancestry
https://www.baylorgenetics.com/publication/matr3-pathogenic-variants-differentially-impair-its-cryptic-splicing-repression-function/?print=print
MATR3 pathogenic variants differentially impair its cryptic splicing repression function - Baylor...
pathogenic variantsdifferentiallyimpaircrypticsplicing
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https://pure.psu.edu/en/publications/de-novo-and-inherited-pathogenic-variants-in-kdm3b-cause-intellec/
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature,...
de novopathogenic variantsintellectual disabilityshort statureinherited
https://moalmanac.org/biomarkers/bmkr:180
VHL pathogenic variants | Molecular Oncology Almanac
pathogenic variantsmolecular oncologyvhlalmanac
https://science.ott.ru/public/article/314/en
Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation...
of thepathogenic variantsnext generationanalysiscah
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https://www.peerkeke.com/article/89523973
Pathogenic Analysis of Two SLC22A5 Variants That Alter RNA Splicing in Patients with Primary...
Functional analysis of SLC22A5 variants can improve diagnostic accuracy in patients with primary carnitine deficiency (PCD). Herein, we performed a genetic...
rna splicingpathogenicanalysistwovariants