Varaico: Literature-Extracted Genetic Variants

Gene:FANCF
Variant:p.Q166*
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FANCF

NM_022725.4:p.Q166*

Associated Papers

Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.

Behera CK et al.

Molecular Biology Reports, 2023

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

Gille JJ et al.

Anemia, 2012

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