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SI c.388_389delinsCC ;(p.L130P)
Variant ID: 3-164786604-AA-GG
NM_001041.3(
SI
):c.388_389delinsCC;(p.L130P)
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:
Cryo-EM structure of human mitochondrial trifunctional protein.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Liang, Kai K; Li, Ningning N; Wang, Xiao X; Dai, Jianye J; Liu, Pulan P; Wang, Chu C; Chen, Xiao-Wei XW; Gao, Ning N; Xiao, Junyu J
Publication Date: 2018-07-03
Variant appearance in text: SI: L130P
PubMed Link:
29915090
Variant Present in the following documents:
Main text
View BVdb publication page