TH c.733A>C ;(p.T245P)

Variant ID: 11-2188225-T-G

NM_000360.3(TH):c.733A>C;(p.T245P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia-A Focus on Tyrosine Hydroxylase Deficiency.

Journal Of Personalized Medicine
Nygaard, Gyrid G; Szigetvari, Peter D PD; Grindheim, Ann Kari AK; Ruoff, Peter P; Martinez, Aurora A; Haavik, Jan J; Kleppe, Rune R; Flydal, Marte I MI
Publication Date: 2021-11-12

Variant appearance in text: TH: T245P
PubMed Link: 34834538
Variant Present in the following documents:
  • Main text
  • jpm-11-01186.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28934581
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Using mathematical models to understand metabolism, genes, and disease.

Bmc Biology
Nijhout, H Frederik HF; Best, Janet A JA; Reed, Michael C MC
Publication Date: 2015-09-23

Variant appearance in text: TH: T245P
PubMed Link: 26400419
Variant Present in the following documents:
  • Main text
  • 12915_2015_Article_189.pdf
View BVdb publication page