PTS c.176T>G ;(p.V59G)

Variant ID: 11-112100943-T-G

NM_000317.2(PTS):c.176T>G;(p.V59G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


BH4-deficient hyperphenylalaninemia in Russia.

Plos One
Gundorova, Polina P; Kuznetcova, Irina A IA; Baydakova, Galina V GV; Stepanova, Anna A AA; Itkis, Yulia S YS; Kakaulina, Victoria S VS; Alferova, Irina P IP; Lyazina, Lidya V LV; Andreeva, Lilya P LP; Kanivets, Ilya I; Zakharova, Ekaterina Y EY; Kutsev, Sergey I SI; Polyakov, Aleksander V AV
Publication Date: 2021

Variant appearance in text: PTS: Val59Gly
PubMed Link: 33822819
Variant Present in the following documents:
  • Main text
  • pone.0249608.pdf
View BVdb publication page