Varaico: Literature-Extracted Genetic Variants

Gene:PM20D1
Variant:p.H84R
Back to variants list

PM20D1

NM_152491.5:p.H84R

Associated Papers

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.

Jian M et al.

Journal of Translational Medicine, 2020

32532289 (PubMed )
Supplement: 12967_2020_2407_MOESM2_ESM.xlsx › Table_S1A_356_SNV

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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."