Varaico: Literature-Extracted Genetic Variants

Gene:MEP1B
Variant:p.R511H
Back to variants list

MEP1B

NM_005925.3:p.R511H

Associated Papers

ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.

Zhang L et al.

Bmc Oral Health, 2025

40841909 (PubMed )
Supplement: 12903_2025_6717_MOESM2_ESM.xlsx › Sheet1

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study.

Chiou HC et al.

Neoplasia (new York, N.y.), 2020

32438306 (PubMed )
Supplement: mmc1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."