Varaico: Literature-Extracted Genetic Variants

Gene:OBSCN
Variant:p.E1055K
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OBSCN

NM_001386125.1:p.E1055K

Associated Papers

A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction.

Dong XQ et al.

Journal of Geriatric Cardiology : Jgc, 2022

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Unraveling obscurins in heart disease.

Grogan A et al.

Pflugers Archiv : European Journal of Physiology, 2019

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s003.xlsx › MSS

Thick Filament Protein Network, Functions, and Disease Association.

Wang L et al.

Comprehensive Physiology, 2018

Obscurin variants and inherited cardiomyopathies.

Marston S

Biophysical Reviews, 2017

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.

Marston S et al.

Plos One, 2015

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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."