Varaico: Literature-Extracted Genetic Variants

Gene:CTPS1
Variant:p.A471T
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CTPS1

NM_001905.4:p.A471T

Associated Papers

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.

Wang H et al.

Molecular Genetics & Genomic Medicine, 2021

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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."