Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.M455T
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NSD1

NM_022455.5:p.M455T

Associated Papers

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.

Romero VI et al.

Bmc Genomics, 2022

36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_7

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M et al.

American Journal of Medical Genetics. Part A, 2005

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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."