Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.L274P
Back to variants list

FANCA

NM_000135.4:p.L274P

Associated Papers

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Castella M et al.

Blood, 2011

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Ameziane N et al.

Human Mutation, 2008

Evidence for subcomplexes in the Fanconi anemia pathway.

Medhurst AL et al.

Blood, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."