Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.M1V
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RB1

NM_000321.3:p.M1V

Associated Papers

Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.

Wang Y et al.

Progress in Retinal and Eye Research, 2025

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Rojanaporn D et al.

Translational Vision Science & Technology, 2022

36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Uni__germline__n__170

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

Tachibana A et al.

Human Mutation, 1999

The Escherichia coli dnaA gene: four functional domains.

Sutton MD et al.

Journal of Molecular Biology, 1997

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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."