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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUOXA1

Variant:p.K280N

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DUOXA1

NM_001276266.2:p.K280N

hg38:chr15:45119298 C>A

Associated Papers

How a mutation undermines cardiac function.

Sedwick C

The Journal of General Physiology, 2019

30578327 (PubMed )

The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM.

Piroddi N et al.

The Journal of General Physiology, 2019

30578328 (PubMed )

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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."