PAH c.1249T>A ;(p.Y417N)

Variant ID: 12-103234244-A-T

NM_000277.1(PAH):c.1249T>A;(p.Y417N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Orphanet Journal Of Rare Diseases
Jeannesson-Thivisol, Elise E; Feillet, François F; Chéry, Céline C; Perrin, Pascal P; Battaglia-Hsu, Shyue-Fang SF; Herbeth, Bernard B; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; de Parscau, Loïc L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Guéant, Jean-Louis JL; Namour, Fares F
Publication Date: 2015-12-15

Variant appearance in text: PAH: Tyr417Asn
PubMed Link: 26666653
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_375.pdf
View BVdb publication page