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PTS c.243G>A ;(p.E81=)
Variant ID: 11-112101405-G-A
NM_000317.2(
PTS
):c.243G>A;(p.E81=)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Chance and necessity in the genome evolution of endosymbiotic bacteria of insects.
The Isme Journal
Sabater-Muñoz, Beatriz B; Toft, Christina C; Alvarez-Ponce, David D; Fares, Mario A MA
Publication Date: 2017-06
Variant appearance in text: PTS: E81E
PubMed Link:
28323281
Variant Present in the following documents:
ismej201718x6.pdf
View BVdb publication page
Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders.
Human Molecular Genetics
Ishikawa, Taizo T; Imamura, Keiko K; Kondo, Takayuki T; Koshiba, Yasushi Y; Hara, Satoshi S; Ichinose, Hiroshi H; Furujo, Mahoko M; Kinoshita, Masako M; Oeda, Tomoko T; Takahashi, Jun J; Takahashi, Ryosuke R; Inoue, Haruhisa H
Publication Date: 2016-12-01
Variant appearance in text: PTS: 243G>A
PubMed Link:
27798097
Variant Present in the following documents:
Main text
ddw339.pdf
View BVdb publication page