Varaico: Literature-Extracted Genetic Variants

Gene:C15orf39
Variant:p.R592H
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C15orf39

NM_015492.5:p.R592H

Associated Papers

Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.

Bisikirska B et al.

Science Translational Medicine, 2024

39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het

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."