Varaico: Literature-Extracted Genetic Variants

Gene:MYZAP
Variant:p.Q254P
Back to variants list

MYZAP

NM_001018100.5:p.Q254P

Associated Papers

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_11

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM1_ESM.pdf

A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.

Maver A et al.

Cold Spring Harbor Molecular Case Studies, 2022

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.

Heliö K et al.

Frontiers in Genetics, 2021

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.

Thorolfsdottir RB et al.

Communications Biology, 2018

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."