Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN1
Variant:p.R348H
Back to variants list

SPTBN1

NM_003128.3:p.R348H

Associated Papers

Millennium-old pathogenic Mendelian mutation discovery for multiple osteochondromas from a Gaelic Medieval graveyard.

Jackson I et al.

European Journal of Human Genetics : Ejhg, 2023

36443465 (PubMed )
Supplement: EMS155735-supplement-Supplemental_tables.xlsx › Table_S4_Ballyhanna_ACMG_classi
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."