Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S127Splc
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RB1

NM_000321.3:p.S127Splc

Associated Papers

Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.

Ratna R et al.

Ophthalmic Genetics, 2025

Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Gomez-Mariano G et al.

Experimental Eye Research, 2025

Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations.

Macías M et al.

Cancer Biomarkers : Section a of Disease Markers, 2008

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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."