Varaico: Literature-Extracted Genetic Variants

Gene:RBBP8
Variant:p.R589H
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RBBP8

NM_002894.3:p.R589H

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

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

Zarrizi R et al.

The Journal of Clinical Investigation, 2020

Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Enikanolaiye A et al.

Genome Research, 2020

32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › A_120N

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC7_ERR166315

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

Stray-Pedersen A et al.

Journal of Clinical Immunology, 2014

CtIP, a candidate tumor susceptibility gene is a team player with luminaries.

Chinnadurai G

Biochimica Et Biophysica Acta, 2006

Characterization of a carboxy-terminal BRCA1 interacting protein.

Wong AK et al.

Oncogene, 1998

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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."