Varaico: Literature-Extracted Genetic Variants

Gene:LARP7
Variant:p.K276insFs
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LARP7

NM_016648.4:p.K276insFs

Associated Papers

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

Soengas-Gonda E et al.

Neuropediatrics, 2023

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.

Wojcik MH et al.

American Journal of Medical Genetics. Part A, 2019

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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."