Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.Y299C
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CHST14

NM_130468.4:p.Y299C

Associated Papers

Editorial: Next generation sequencing (NGS) for rare diseases diagnosis - Volume II.

Yang XA et al.

Frontiers in Genetics, 2023

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Zhou YY et al.

Frontiers in Genetics, 2022

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