PAH c.941C>T ;(p.P314L)

Variant ID: 12-103240701-G-A

NM_000277.1(PAH):c.941C>T;(p.P314L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.

International Journal Of Neonatal Screening
van Campen, Julia C JC; Sollars, Elizabeth S A ESA; Thomas, Rebecca C RC; Bartlett, Clare M CM; Milano, Antonio A; Parker, Matthew D MD; Dawe, Jennifer J; Winship, Peter R PR; Peck, Gerrard G; Grafham, Darren D; Kirk, Richard J RJ; Bonham, James R JR; Goodeve, Anne C AC; Dalton, Ann A
Publication Date: 2019-12

Variant appearance in text: PAH: 941C>T
PubMed Link: 31844782
Variant Present in the following documents:
  • Main text
  • IJNS-05-00040.pdf
View BVdb publication page