Varaico: Literature-Extracted Genetic Variants

Gene:LARP7
Variant:p.T243insFs
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LARP7

NM_016648.4:p.T243insFs

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

A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami.

Fauntleroy-Love KD et al.

Child Neurology Open, 0

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