Varaico: Literature-Extracted Genetic Variants

Gene:NAA15
Variant:p.I152_G153delFs
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NAA15

NM_057175.5:p.I152_G153delFs

Associated Papers

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

Patel R et al.

American Journal of Medical Genetics. Part A, 2024

Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.

Patel R et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.

Gogoll L et al.

American Journal of Medical Genetics. Part A, 2021

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Cheng H et al.

Human Molecular Genetics, 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."