Varaico: Literature-Extracted Genetic Variants

Gene:COPA
Variant:p.V242A
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COPA

NM_004371.4:p.V242A

Associated Papers

COPA syndrome caused by a novel p.Arg227Cys COPA gene variant.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review.

Zeng J et al.

Frontiers in Pediatrics, 2021

[A pathogenic mutation in the COPA gene causes a family of COPA syndrome].

Lin KZ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020

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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."