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PAH c.163_165del ;(p.F55del)
Variant ID: 12-103306572-CAAA-C
NM_000277.1(
PAH
):c.163_165del;(p.F55del)
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:
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.
Methods And Protocols
Tolve, Manuela M; Artiola, Cristiana C; Pasquali, Amelia A; Giovanniello, Teresa T; D'Amici, Sirio S; Angeloni, Antonio A; Pizzuti, Antonio A; Carducci, Claudia C; Leuzzi, Vincenzo V; Carducci, Carla C
Publication Date: 2018-08-16
Variant appearance in text: PAH: Phe55del
PubMed Link:
31164572
Variant Present in the following documents:
Main text
mps-01-00030.pdf
View BVdb publication page
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Plos One
Yubero, Dèlia D; Brandi, Núria N; Ormazabal, Aida A; Garcia-Cazorla, Àngels À; Pérez-Dueñas, Belén B; Campistol, Jaime J; Ribes, Antonia A; Palau, Francesc F; Artuch, Rafael R; Armstrong, Judith J; ,
Publication Date: 2016
Variant appearance in text: PAH: Phe55del
PubMed Link:
27243974
Variant Present in the following documents:
pone.0156359.s002.xlsx, sheet 1
View BVdb publication page