Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A9
Variant:p.R311Q
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SLC17A9

NM_022082.4:p.R311Q

Associated Papers

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Physiopathological roles of vesicular nucleotide transporter (VNUT), an essential component for vesicular ATP release.

Hasuzawa N et al.

Biochimica Et Biophysica Acta. Biomembranes, 2020

Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis.

Cui H et al.

Journal of Medical Genetics, 2014

Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.

Qian W et al.

Indian Journal of Dermatology, 0

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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."