NOTCH1 c.2449dup ;(p.C817Lfs*11)

Variant ID: 9-139407490-C-CA

NM_017617.3(NOTCH1):c.2449dup;(p.C817Lfs*11)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.

Children (Basel, Switzerland)
Zaidi, Abbas H AH; Yamada, Jessica M JM; Miller, David T DT; McEnaney, Kerry K; Ireland, Christina C; Roberts, Amy E AE; Gauvreau, Kimberlee K; Jenkins, Kathy J KJ; Chen, Ming Hui MH
Publication Date: 2021-02-10

Variant appearance in text: NOTCH1: C817LfsX11
PubMed Link: 33578785
Variant Present in the following documents:
  • Main text
  • children-08-00128.pdf
View BVdb publication page