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PRRT2 c.178_179delinsAT ;(p.D60I)
Variant ID: 16-29824553-GA-AT
NM_145239.2(
PRRT2
):c.178_179delinsAT;(p.D60I)
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:
Farnesylation-defective Rheb Increases Axonal Length Independently of mTORC1 Activity in Embryonic Primary Neurons.
Experimental Neurobiology
Choi, Seunghyuk S; Sadra, Ali A; Kang, Jieun J; Ryu, Jae Ryun JR; Kim, June Hoan JH; Sun, Woong W; Huh, Sung-Oh SO
Publication Date: 2019-04
Variant appearance in text: PKC: D60I
PubMed Link:
31138988
Variant Present in the following documents:
Main text
en-28-172.pdf
View BVdb publication page