Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.L1091delFs
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NSD1

NM_022455.5:p.L1091delFs

Associated Papers

Two cases of Sotos syndrome with novel mutations of the NSD1 gene.

Fryssira H et al.

Genetic Counseling (geneva, Switzerland), 2010

NSD1 mutations in Sotos syndrome.

Faravelli F

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

Identification of eight novel NSD1 mutations in Sotos syndrome.

Kamimura J et al.

Journal of Medical Genetics, 2003

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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."