Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.P157P
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ELAC2

NM_018127.7:p.P157P

Associated Papers

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.

Akawi NA et al.

Orphanet Journal of Rare Diseases, 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."