Varaico: Literature-Extracted Genetic Variants

Gene:NAA15
Variant:p.D76fs
Back to variants list

NAA15

NM_057175.5:p.D76fs

Associated Papers

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_MOESM5_ESM.xlsx › NAA15_clinvar

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H et al.

American Journal of Human Genetics, 2018

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."