Varaico: Literature-Extracted Genetic Variants

Gene:NAA10
Variant:p.Y31C
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NAA10

NM_003491.4:p.Y31C

Associated Papers

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.

Spedicati B et al.

Genes, 2025

Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.

Bottillo I et al.

American Journal of Medical Genetics. Part A, 2025

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

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

Lyon GJ et al.

European Journal of Human Genetics : Ejhg, 2023

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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."