Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.T2000insFs
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NSD1

NM_022455.5:p.T2000insFs

Associated Papers

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

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.

Nagai T et al.

Journal of Medical Genetics, 2003

Haploinsufficiency of NSD1 causes Sotos syndrome.

Kurotaki N et al.

Nature Genetics, 2002

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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."