Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings.
Li J et al.
Journal of Biomolecular Structure & Dynamics, 2024
Genetic overview of postaxial polydactyly: Updated classification.
Ahmad Z et al.
Clinical Genetics, 2023
Structural Evaluation and Conformational Dynamics of ZNF141T474I Mutation Provoking Postaxial Polydactyly Type A.
Ali Y et al.
Bioengineering (basel, Switzerland), 2022
Genetics of congenital anomalies of the hand.
Kyriazis Z et al.
World Journal of Orthopedics, 2022
Advances in the molecular genetics of non-syndromic polydactyly.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
Kalsoom UE et al.
Journal of Medical Genetics, 2013
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