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
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.
Gold NB et al.
Hgg Advances, 2022
In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.
Shinwari K et al.
Thescientificworldjournal, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
Muthusamy B et al.
Frontiers in Psychiatry, 2020
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