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PAH c.124_126del ;(p.K42del)
Variant ID: 12-103306611-CTTT-C
NM_000277.1(
PAH
):c.124_126del;(p.K42del)
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:
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.
Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28
Variant appearance in text: PAH: 124_126del; Lys42del
PubMed Link:
36855133
Variant Present in the following documents:
12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
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: Lys42del
PubMed Link:
27243974
Variant Present in the following documents:
pone.0156359.s002.xlsx, sheet 1
View BVdb publication page