Varaico: Literature-Extracted Genetic Variants

Gene:LARP7
Variant:p.V282_R291delFs
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LARP7

NM_016648.4:p.V282_R291delFs

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

Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.

Soengas-Gonda E et al.

Neuropediatrics, 2023

Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.

Das S et al.

American Journal of Medical Genetics. Part A, 2021

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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."