Varaico: Literature-Extracted Genetic Variants

Gene:FANCE
Variant:p.R48W
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FANCE

NM_021922.3:p.R48W

Associated Papers

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa SC et al.

Blood, 2013

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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."