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
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family.
Wonkam-Tingang E et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A et al.
Brain : a Journal of Neurology, 2019
Identification of a novel somatic mutation of POU6F2 by whole-genome sequencing in prolactinoma.
Miao Y et al.
Molecular Genetics & Genomic Medicine, 2019
A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
Chen DY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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