Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EMC1

Variant:p.I863fs

Back to variants list

EMC1

NM_015047.3:p.I863fs

hg38:chr1:19220848 AA>N

Associated Papers

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Bryen SJ et al.

Clinical Genetics, 2023

36799557 (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."