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.




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