Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.G19fs
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CHST14

NM_130468.4:p.G19fs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing.

Nitahara-Kasahara Y et al.

Disease Models & Mechanisms, 2021

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Kosho T et al.

Genes, 2019

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