NSD1 c.927+13262C>A

Variant ID: 5-176576293-C-A

NM_022455.4(NSD1):c.927+13262C>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic regulation of linear growth.

Annals Of Pediatric Endocrinology & Metabolism
Yue, Shanna S; Whalen, Philip P; Jee, Youn Hee YH
Publication Date: 2019-03

Variant appearance in text: rs11950938
PubMed Link: 30943674
Variant Present in the following documents:
  • Main text
  • apem-2019-24-1-2.pdf
View BVdb publication page



Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

American Journal Of Human Genetics
Tatton-Brown, Katrina K; Loveday, Chey C; Yost, Shawn S; Clarke, Matthew M; Ramsay, Emma E; Zachariou, Anna A; Elliott, Anna A; Wylie, Harriet H; Ardissone, Anna A; Rittinger, Olaf O; Stewart, Fiona F; Temple, I Karen IK; Cole, Trevor T; , ; Mahamdallie, Shazia S; Seal, Sheila S; Ruark, Elise E; Rahman, Nazneen N
Publication Date: 2017-05-04

Variant appearance in text: rs11950938
PubMed Link: 28475857
Variant Present in the following documents:
  • mmc3.pdf
View BVdb publication page