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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC4A9

Variant:p.A454T

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SLC4A9

NM_001258428.2:p.A454T

hg38:chr5:140364087 G>A

Associated Papers

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.

Stellacci E et al.

Human Mutation, 2018

29737001 (PubMed )

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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."