Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A2
Variant:p.T643fs
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ATP6V0A2

NM_012463.4:p.T643fs

Associated Papers

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Morlino S et al.

American Journal of Medical Genetics. Part A, 2021

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Bastaki F et al.

Annals of Human Genetics, 2018

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Fischer B et al.

Human Genetics, 2012

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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."