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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF128

Variant:p.T416P

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RNF128

NM_194463.2:p.T416P

hg38:chrX:106795672 A>C

Associated Papers

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P et al.

Human Molecular Genetics, 1998

9618166 (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."