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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UTP14A

Variant:p.R647C

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UTP14A

NM_006649.4:p.R647C

hg38:chrX:129926108 C>T

Associated Papers

The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.

Shashi V et al.

Clinical Genetics, 2015

25256757 (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."