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PRRT2 c.88_89delinsTT ;(p.A30F)
Variant ID: 16-29824463-GC-TT
NM_145239.2(
PRRT2
):c.88_89delinsTT;(p.A30F)
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:
Comprehensive metabolomic study of the response of HK-2 cells to hyperglycemic hypoxic diabetic-like milieu.
Scientific Reports
Valdés, Alberto A; Lucio-Cazaña, Francisco J FJ; Castro-Puyana, María M; García-Pastor, Coral C; Fiehn, Oliver O; Marina, María Luisa ML
Publication Date: 2021-03-03
Variant appearance in text: PKC: A30F
PubMed Link:
33658594
Variant Present in the following documents:
Main text
View BVdb publication page