Varaico: Literature-Extracted Genetic Variants

Gene:NSD1
Variant:p.K618E
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NSD1

NM_022455.5:p.K618E

Associated Papers

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

Neonatal congenital leukemia caused by several missense mutations and AFF1-KMT2A fusion: A case report.

Qin B et al.

Oncology Letters, 2022

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3
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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."