Varaico: Literature-Extracted Genetic Variants

Gene:FANCM
Variant:p.P999L
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FANCM

NM_020937.4:p.P999L

Associated Papers

Structural basis of Fanconi anemia pathway activation by FANCM.

Bythell-Douglas R et al.

The Embo Journal, 2025

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Angioimmunoblastic T-cell lymphoma: Novel recurrent mutations and prognostic biomarkers by cell-free DNA profiling.

Zhang C et al.

British Journal of Haematology, 2023

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Figlioli G et al.

European Journal of Human Genetics : Ejhg, 2023

36707629 (PubMed )
Supplement: 41431_2022_1257_MOESM2_ESM.xlsx › ST2

Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm.

Kwon SR et al.

Plos One, 2022

A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.

Chiang YC et al.

Biomedicines, 2021

34680501 (PubMed )
Supplement: biomedicines-09-01384-s001.zip › OV_NGS_Table_S1.pdf

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
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