PAH c.737del ;(p.A246Vfs*95)

Variant ID: 12-103246698-AG-A

NM_000277.1(PAH):c.737del;(p.A246Vfs*95)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: PAH: 737delC
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
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Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: PAH: 737delC; rs199475666
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Genetic Testing And Molecular Biomarkers
Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM
Publication Date: 2016-06

Variant appearance in text: PAH: A246Vfs
PubMed Link: 27104957
Variant Present in the following documents:
  • Main text
View BVdb publication page