Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.Q490_V491Splc
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FANCA

NM_000135.4:p.Q490_V491Splc

Associated Papers

Immunophenotypic spectrum and mutational landscape of EBV-positive inflammatory follicular dendritic cell sarcoma.

Wang JC et al.

Histopathology, 2026

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.

Schwartz M et al.

Clinical Genetics, 2019

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

High frequency of large intragenic deletions in the Fanconi anemia group A gene.

Morgan NV et al.

American Journal of Human Genetics, 1999

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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."