Varaico: Literature-Extracted Genetic Variants

Gene:FANCI
Variant:p.G53Splc
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FANCI

NM_001113378.2:p.G53Splc

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Yamaguchi T et al.

Japanese Journal of Clinical Oncology, 2025

41342546 (PubMed )
Supplement: table_s3_hyaf181.xlsx › Supplemental_Table_3

Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency.

Cao L et al.

Human Genetics, 2024

Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.

Feng H et al.

Translational Andrology and Urology, 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 › S3B

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.

Chan SH et al.

Jnci Cancer Spectrum, 2021

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Mori M et al.

Haematologica, 2020

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B et al.

Aging, 2020

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Mori M et al.

Haematologica, 2019

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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."