Varaico: Literature-Extracted Genetic Variants

Gene:HSPB8
Variant:p.R78M
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HSPB8

NM_014365.3:p.R78M

Associated Papers

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

Oliver GR et al.

Plos One, 2019

31577830 (PubMed )
Supplement: pone.0223337.s002.xlsx › SuppTable2_Variants_of_interest

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.

Lam L et al.

Heartrhythm Case Reports, 2015

28491533 (PubMed )
Supplement: mmc1.docx
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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."