Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.R53H
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ATP1A1

NM_000701.8:p.R53H

Associated Papers

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Martins Custodio H et al.

Brain : a Journal of Neurology, 2023

37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File013.xlsx › Sheet_1

[Clinical features and genetic analysis of two children with Williams-Beuren syndrome].

Huang M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J et al.

Molecular Genetics & Genomic Medicine, 2019

30809968 (PubMed )
Supplement: MGG3-7-e605-s002.xlsx › Supp_Table2__Missense_variants_
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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."