Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.Q264_V265Splc
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FANCA

NM_000135.4:p.Q264_V265Splc

Associated Papers

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas B et al.

Haematologica, 2023

35417938 (PubMed )
Supplement: 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx › Table_S2

[Mechanisms of genomic instability in Fanconi anemia].

Itaya A et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.

Demuth I et al.

European Journal of Human Genetics : Ejhg, 2000

[Fanconi anemia].

Bessho F

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000

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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."