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.




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