Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.K474_S475delFs
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ATP6V0A2

NM_012463.4:p.K474_S475delFs

Associated Papers

[Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene].

Zhu R et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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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."