Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.H251N
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TTN

NM_001267550.2:p.H251N

Associated Papers

Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Grinzato A et al.

Biorxiv : the Preprint Server for Biology, 2023

Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Kawana M et al.

Frontiers in Physiology, 2022

The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Nag S et al.

Nature Structural & Molecular Biology, 2017

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

Kaski JP et al.

Circulation. Cardiovascular Genetics, 2009

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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."