Varaico: Literature-Extracted Genetic Variants

Gene:EMC1
Variant:p.V792V
Back to variants list

EMC1

NM_015047.3:p.V792V

Associated Papers

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Alzayed NT et al.

Neurology. Genetics, 2024

Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation.

Wang G et al.

Frontiers in Molecular Neuroscience, 2023

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."