phenotype correlation - Robuta Search

https://researchdiscovery.drexel.edu/esploro/outputs/journalArticle/Caveat-to-genotype-phenotype-correlation-in-mucopolysaccharidosis/991020830724904721 Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical... Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: Discordant clinical severity of R468W and R468Q mutations of the... phenotype correlation caveat genotype https://open.clemson.edu/all_dissertations/3802/ "BAP1: Genotype-Phenotype Correlation, Variant Classification, and Trea" by Elizabeth Hobbs BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21.3 and encodes a deubiquitinase enzyme (DUB) involved in DNA repair,... phenotype correlation genotype variant https://pubmed.ncbi.nlm.nih.gov/33674768/ Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A... We expand the KDM6A variant spectrum and delineate the KS2 phenotype. We demonstrate that the variability of the KS2 phenotypic depends on sex and the variant... sex differences phenotype correlation clinical delineation https://pubmed.ncbi.nlm.nih.gov/33824467/ Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated... Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly... https://publikationen.uni-tuebingen.de/xmlui/handle/10900/98382 Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27... https://pubmed.ncbi.nlm.nih.gov/14966923/ Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease 1384del17bp is a novel mutation found in WD patients. R778L is the most common mutation of ATP7B gene. There is a correlation between R778L and hepatic... in chinese correlation genotype https://pubmed.ncbi.nlm.nih.gov/35355500/ Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine...