Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.Y266insFs
Back to variants list

CHST14

NM_130468.4:p.Y266insFs

Associated Papers

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Minatogawa M et al.

Journal of Medical Genetics, 2022

34815299 (PubMed )
Supplement: jmedgenet-2020-107623supp003.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."