Varaico: Literature-Extracted Genetic Variants

Gene:FAM50A
Variant:p.W206G
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FAM50A

NM_004699.4:p.W206G

Associated Papers

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Lee YR et al.

Nature Communications, 2020

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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."