Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.R609Splc
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FANCA

NM_000135.4:p.R609Splc

Associated Papers

Tracking Cytopenias in FANCA-deficient Fanconi Anemia.

Maxwell RR et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445598 (PubMed )
Supplement: media-1.pdf

Patient-Derived Xenograft Models of Fanconi Anemia-Associated Head and Neck Cancer Identify Personalized Therapeutic Strategies.

Grandis J et al.

The Journal of Clinical Investigation, 2025

41401087 (PubMed )
Supplement: jci-136-195334-s131.pdf

Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.

Saranti S et al.

Children (basel, Switzerland), 2025

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.

Altintas B et al.

Haematologica, 2023

35417938 (PubMed )
Supplement: 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx › Table_S2

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

The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.

Deek MP et al.

European Urology, 2021

33419682 (PubMed )
Supplement: NIHMS1793749-supplement-20.xlsx › Sheet1

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

Kimble DC et al.

Human Mutation, 2018

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa SC et al.

Blood, 2013

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

Moghrabi NN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009

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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."