SI c.448_449delinsGA ;(p.T150D)

Variant ID: 3-164786544-GT-TC

NM_001041.3(SI):c.448_449delinsGA;(p.T150D)

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:

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

International Journal Of Molecular Sciences
Evtushenko, Nadezhda A NA; Beilin, Arkadii K AK; Kosykh, Anastasiya V AV; Vorotelyak, Ekaterina A EA; Gurskaya, Nadya G NG
Publication Date: 2021-11-18

Variant appearance in text: SI: T150D
PubMed Link: 34830328
Variant Present in the following documents:
  • Main text
  • ijms-22-12446.pdf
View BVdb publication page