Varaico: Literature-Extracted Genetic Variants

Gene:SELP
Variant:p.R57H
Back to variants list

SELP

NM_003005.4:p.R57H

Associated Papers

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Dantas VGL et al.

Scientific Reports, 2018

29880844 (PubMed )
Supplement: 41598_2018_26818_MOESM1_ESM.pdf

Genomic complexity and dynamics of clonal evolution in childhood acute myeloid leukemia studied with whole-exome sequencing.

Masetti R et al.

Oncotarget, 2016

27462774 (PubMed )
Supplement: oncotarget-07-56746-s001.pdf

Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Brastianos PK et al.

Nature Genetics, 2014

24413733 (PubMed )
Supplement: NIHMS547859-supplement-1.xlsx › Supplementary_Table_2
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."