Varaico: Literature-Extracted Genetic Variants

Gene:RBBP8
Variant:p.H456R
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RBBP8

NM_002894.3:p.H456R

Associated Papers

A retrospective single-center pilot study of the genetic background of the transplanted kidney.

Novotna A et al.

Plos One, 2025

39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1

Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families.

Boujemaa M et al.

Frontiers in Genetics, 2024

38313678 (PubMed )
Supplement: Table1.xlsx › Table_S2

Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.

Zarrizi R et al.

The Journal of Clinical Investigation, 2020

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 79.65
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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."