Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.S994G
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FANCA

NM_000135.4:p.S994G

Associated Papers

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.

Fluhler H et al.

Genetics in Medicine Open, 2025

Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.

Blombery P et al.

Haematologica, 2021

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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."