Varaico: Literature-Extracted Genetic Variants

Gene:RBBP8
Variant:p.R839Q
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RBBP8

NM_002894.3:p.R839Q

Associated Papers

Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.

Emelyanova M et al.

Therapeutic Advances in Medical Oncology, 2022

35309086 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359221083050.xlsx › Supplement_table_1

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Dawidziuk M et al.

Genes, 2021

34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Rossetti R et al.

Frontiers in Endocrinology, 2021

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

Zarrizi R et al.

The Journal of Clinical Investigation, 2020

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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."