NPEPPS c.242A>T ;(p.E81V)

Variant ID: 17-45608908-A-T

NM_006310.3(NPEPPS):c.242A>T;(p.E81V)

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:

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.

Open Life Sciences
Xing, Junyue J; Wang, Hongdan H; Xie, Yuanyuan Y; Fan, Taibing T; Cui, Cunying C; Li, Yanan Y; Wang, Shuai S; Gu, Weiyue W; Wang, Chengzeng C; Tang, Hao H; Liu, Lin L
Publication Date: 2023

Variant appearance in text: NPEPPS: E81V
PubMed Link: 37215497
Variant Present in the following documents:
  • biol-2022-0593-sm.pdf
View BVdb publication page