Varaico: Literature-Extracted Genetic Variants

Gene:EMC1
Variant:p.P584T
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EMC1

NM_015047.3:p.P584T

Associated Papers

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.

Chung HL et al.

Human Molecular Genetics, 2022

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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."