Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.M1_R4del0
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CHST14

NM_130468.4:p.M1_R4del0

Associated Papers

Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14).

Kawakita M et al.

Genes, 2023

Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells.

Yue F et al.

Genes, 2023

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
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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."