Varaico: Literature-Extracted Genetic Variants

Gene:NAA15
Variant:p.R782*
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NAA15

NM_057175.5:p.R782*

Associated Papers

Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.

Makwana R 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

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

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

37130971 (PubMed )
Supplement: 41431_2023_1368_MOESM2_ESM.xlsx › NAA15

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Zhao JJ et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA et al.

Nature Genetics, 2017

28191889 (PubMed )
Supplement: NIHMS846201-supplement-1.pdf
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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."