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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC5A5

Variant:p.A364P

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SLC5A5

NM_000453.3:p.A364P

hg38:chr19:17881991 G>C

Associated Papers

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

Chang HR et al.

American Journal of Human Genetics, 2019

30773278 (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."