Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A1
Variant:p.H801Y
Back to variants list

ATP6V0A1

NM_001130021.3:p.H801Y

Associated Papers

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.

Li C et al.

Scientific Reports, 2024

[Clinical and genetic characteristics of a child with Developmental and epileptic encephalopathy 104 due to variant of ATP6V0A1 gene].

Li C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."