Varaico: Literature-Extracted Genetic Variants

Gene:EMC1
Variant:p.L873_P874delFs
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EMC1

NM_015047.3:p.L873_P874delFs

Associated Papers

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

Alzayed NT et al.

Neurology. Genetics, 2024

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Harel T et al.

American Journal of Human Genetics, 2016

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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."