Varaico: Literature-Extracted Genetic Variants

Gene:NSD2
Variant:p.D1158insFs
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NSD2

NM_001042424.3:p.D1158insFs

Associated Papers

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome.

Yang Q et al.

Frontiers in Pediatrics, 2023

37351323 (PubMed )
Supplement: Datasheet1.xls › Table_S1

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Zanoni P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33941880 (PubMed )
Supplement: NIHMS1700423-supplement-Supplementary_tables.xlsx › Table_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."