Publications:

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Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.

Cancers

Hülsenbeck, Isabel I; Frank, Mirjam M; Biewald, Eva E; Kanber, Deniz D; Lohmann, Dietmar R DR; Ketteler, Petra P

Publication Date: 2021-03-31

Variant appearance in text: RB1: 658C>G

PubMed Link: 33807189

Variant Present in the following documents:

• Main text
• cancers-13-01605.pdf

View BVdb publication page

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Unilateral retinocytoma associated with a variant in the RB1 gene.

Molecular Genetics & Genomic Medicine

Wu, Shijing S; Zou, Xuan X; Sun, Zixi Z; Zhu, Tian T; Wei, Xing X; Sui, Ruifang R

Publication Date: 2020-04

Variant appearance in text: RB1: 658C>G; Leu220Val

PubMed Link: 31997559

Variant Present in the following documents:

• Main text
• MGG3-8-e1156.pdf

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

Plos One

Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS

Publication Date: 2017

Variant appearance in text: RB1: 658C>G; Leu220Val

PubMed Link: 28575107

Variant Present in the following documents:

• Main text
• pone.0178776.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: RB1: L220V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients.

Blood Cancer Journal

Kortuem, K M KM; Braggio, E E; Bruins, L L; Barrio, S S; Shi, C S CS; Zhu, Y X YX; Tibes, R R; Viswanatha, D D; Votruba, P P; Ahmann, G G; Fonseca, R R; Jedlowski, P P; Schlam, I I; Kumar, S S; Bergsagel, P L PL; Stewart, A K AK

Publication Date: 2016-02-26

Variant appearance in text: RB1: Leu220Val

PubMed Link: 26918361

Variant Present in the following documents:

• bcj20161x1.pdf

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Nucleic Acids Research

Desmet, François-Olivier FO; Hamroun, Dalil D; Lalande, Marine M; Collod-Béroud, Gwenaëlle G; Claustres, Mireille M; Béroud, Christophe C

Publication Date: 2009-05

Variant appearance in text: RB1: 658C>G

PubMed Link: 19339519

Variant Present in the following documents:

• Main text
• gkp215.pdf

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