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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RFWD3

Variant:p.T611S

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RFWD3

NM_018124.4:p.T611S

hg38:chr16:74628589 G>C

Associated Papers

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

Mégarbané A et al.

Molecular Syndromology, 2021

34899143 (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."