Varaico: Literature-Extracted Genetic Variants

Gene:FANCC
Variant:p.Q3*
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FANCC

NM_000136.3:p.Q3*

Associated Papers

Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.

Su JY et al.

Elife, 2025

39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable

Erratum to: Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2025

[STEM CELL TRANSPLANTATIONS FOR PATIENTS WITH FANCONI ANEMIA: AN ISRAELI TERTIARY CENTER EXPERIENCE].

Even-Or E et al.

Harefuah, 2023

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Steinberg-Shemer O et al.

Haematologica, 2020

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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."