Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.A295S
Back to variants list

PSAP

NM_002778.4:p.A295S

Associated Papers

Functional Characterization of Cardiac Actin Mutants Causing Hypertrophic (p.A295S) and Dilated Cardiomyopathy (p.R312H and p.E361G).

Hassoun R et al.

International Journal of Molecular Sciences, 2022

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Integration of Cardiac Actin Mutants Causing Hypertrophic (p.A295S) and Dilated Cardiomyopathy (p.R312H and p.E361G) into Cellular Structures.

Erdmann C et al.

Antioxidants (basel, Switzerland), 2021

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

Mogensen J et al.

Journal of Medical Genetics, 2004

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."