Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.R1471G
Back to variants list

NSD1

NM_022455.5:p.R1471G

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

NSD1 mutations in Sotos syndrome.

Faravelli F

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005

Molecular basis of Sotos syndrome.

Niikawa N

Hormone Research, 2004

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Kurotaki N et al.

Human Mutation, 2003

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."