Varaico: Literature-Extracted Genetic Variants

Gene:LARP7
Variant:p.K219E
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LARP7

NM_016648.4:p.K219E

Associated Papers

Functional Characterization of Variants in LARP7: Report of Three New Individuals With Alazami Syndrome and a Literature Review.

Ambrose A et al.

Human Mutation, 2025

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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."