Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S463_E464Splc
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RB1

NM_000321.3:p.S463_E464Splc

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

RB1 gene mutations and genetic spectrum in retinoblastoma cases.

Akdeniz Odemis D et al.

Medicine, 2023

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Tomar S et al.

Plos One, 2017

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

Zhang K et al.

Human Mutation, 2008

Genetic Variations in TP53, RB1, and PTEN in a Selected Sample of Slovak Patients With Metastatic Castration-resistant Prostate Cancer.

Holeckova KH et al.

In Vivo (athens, Greece), 0

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