Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPEG

Variant:p.E1626_F1627insA

Back to variants list

SPEG

NM_005876.5:p.E1626_F1627insA

hg38:chr2:219477954 G>GNNN

Associated Papers

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

Almannai M et al.

Circulation. Genomic and Precision Medicine, 2021

33794647 (PubMed )

Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.

Lornage X et al.

Journal of Neuromuscular Diseases, 2018

29614691 (PubMed )

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."