Varaico: Literature-Extracted Genetic Variants

Gene:RFWD3
Variant:p.R501C
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RFWD3

NM_018124.4:p.R501C

Associated Papers

Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.

Kocagil S et al.

Molecular Syndromology, 2023

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.

Tüysüz B et al.

European Journal of Medical Genetics, 2023

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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."