NR0B2 c.79del ;(p.S27Pfs*79)

Variant ID: 1-27240353-GA-G

NM_021969.2(NR0B2):c.79del;(p.S27Pfs*79)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.

Molecular Genetics & Genomic Medicine
Qie, Di D; Zhang, Yulin Y; Gong, Xue X; He, Yunru Y; Qiao, Lina L; Lu, Guoyan G; Li, Yifei Y
Publication Date: 2021-08

Variant appearance in text: SHP: 79delT
PubMed Link: 34192422
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1740.pdf
View BVdb publication page


SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.

Molecular Genetics & Genomic Medicine
Qie, Di D; Zhang, Yulin Y; Gong, Xue X; He, Yunru Y; Qiao, Lina L; Lu, Guoyan G; Li, Yifei Y
Publication Date: 2021-08

Variant appearance in text: SHP: 79delT
PubMed Link: 34192422
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1740.pdf
View BVdb publication page