Varaico: Literature-Extracted Genetic Variants

Gene:PRB2
Variant:p.R112Q
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PRB2

NM_006248.4:p.R112Q

Associated Papers

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations

Clinicopathological features of pseudomyogenic hemangioendothelioma and precision therapy based on whole exome sequencing.

Wei J et al.

Cancer Communications (london, England), 2020

32227592 (PubMed )
Supplement: CAC2-40-197-s002.pdf

Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.

Lee SH et al.

Cancers, 2020

32023847 (PubMed )
Supplement: cancers-12-00325-s001.zip › cancers-689749-supplement_final › Table_S2.xlsx › TableS3

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Shen Y et al.

Nature Communications, 2019

30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA
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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."