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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FANCA

Variant:p.Q1096H

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FANCA

NM_000135.4:p.Q1096H

hg38:chr16:89748719 C>A

Associated Papers

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Levran O et al.

Human Mutation, 2005

15643609 (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."