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PTS c.379C>G ;(p.L127V)
Variant ID: 11-112104219-C-G
NM_000317.2(
PTS
):c.379C>G;(p.L127V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.
Endocrinology, Diabetes & Metabolism
Rovelli, Valentina V; Cefalo, Graziella G; Ercoli, Vittoria V; Zuvadelli, Juri J; Olivia, Turri T; Graziani, Daniela D; Luisella, Alberti A; Bassi, Davide D; Re Dionigi, Alice A; Selmi, Raed R; Paci, Sabrina S; Salvatici, Elisabetta E; Banderali, Giuseppe G
Publication Date: 2022-12-19
Variant appearance in text: PTS: Leu127Val
PubMed Link:
36537053
Variant Present in the following documents:
Main text
EDM2-6-e396.pdf
View BVdb publication page
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
Molecular Genetics And Metabolism
Manzoni, Francesca F; Salvatici, Elisabetta E; Burlina, Alberto A; Andrews, Ashley A; Pasquali, Marzia M; Longo, Nicola N
Publication Date: 2020-12
Variant appearance in text: PTPS: 379C>G
PubMed Link:
33234470
Variant Present in the following documents:
Main text
View BVdb publication page