Varaico: Literature-Extracted Genetic Variants

Gene:NAA15
Variant:p.R27G
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NAA15

NM_057175.5:p.R27G

Associated Papers

Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.

Makwana R et al.

American Journal of Medical Genetics. Part A, 2025

Naa15 Haploinsufficiency and De Novo Missense Variants Associate With Neurodevelopmental Disorders and Interfere With Neurogenesis and Neuron Development.

He M et al.

Autism Research : Official Journal of the International Society for Autism Research, 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

A Natural History of NAA15 -related Neurodevelopmental Disorder Through Adolescence.

Makwana R et al.

Medrxiv : the Preprint Server for Health Sciences, 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

Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.

Keisling J et al.

The Journal of Pediatrics, 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

Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.

Ritter A 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."