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PAH c.1046del ;(p.S349Yfs*51)
Variant ID: 12-103238133-TG-T
NM_000277.1(
PAH
):c.1046del;(p.S349Yfs*51)
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:
Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1.
Journal Of Cellular And Molecular Medicine
Circelli, Luisa L; Ramundo, Valeria V; Marotta, Vincenzo V; Sciammarella, Concetta C; Marciello, Francesca F; Del Prete, Michela M; Sabatino, Lina L; Pasquali, Daniela D; Izzo, Francesco F; Scala, Stefania S; Colao, Annamaria A; Faggiano, Antongiulio A; Colantuoni, Vittorio V; ,
Publication Date: 2015-07
Variant appearance in text: PAH: 1046delC
PubMed Link:
25824098
Variant Present in the following documents:
Main text
jcmm0019-1735.pdf
View BVdb publication page