Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB6
Variant:p.R108*
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EFCAB6

NM_022785.4:p.R108*

Associated Papers

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.

Ben Haj Ali A et al.

Molecular Genetics & Genomic Medicine, 2019

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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."