Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.A326_W327insFs
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CHST14

NM_130468.4:p.A326_W327insFs

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

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR et al.

American Journal of Medical Genetics. Part A, 2016

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