Varaico: Literature-Extracted Genetic Variants

Gene:LARP7
Variant:p.R366delFs
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LARP7

NM_016648.4:p.R366delFs

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

40548259 (PubMed )
Supplement: 6490124.f1.zip › SupplementalTable4.xlsx › Sheet1

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Palumbo P et al.

Genes, 2020

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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."