Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.Q1099H
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FANCA

NM_000135.4:p.Q1099H

Associated Papers

DNA-PKcs inhibition improves sequential gene insertion of the full-length CFTR cDNA in airway stem cells.

Stack JT et al.

Molecular Therapy. Nucleic Acids, 2024

DNA-PKcs Inhibition Improves Sequential Gene Insertion of the Full-Length CFTR cDNA in Airway Stem Cells.

Stack JT et al.

Biorxiv : the Preprint Server for Biology, 2024

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

Yu K et al.

Blood Advances, 2024

38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Figure_S9B

Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.

Alonso-Luna O et al.

Molecular Genetics & Genomic Medicine, 2024

38093606 (PubMed )
Supplement: MGG3-12-e2332-s001.xlsx › Index_case_

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

Kimble DC et al.

Human Mutation, 2018

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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."