PAH c.961C>A ;(p.L321I)

Variant ID: 12-103240681-G-T

NM_000277.1(PAH):c.961C>A;(p.L321I)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

International Journal Of Molecular Sciences
Zinchenko, Rena A RA; Makaov, Amin Kh AK; Marakhonov, Andrey V AV; Galkina, Varvara A VA; Kadyshev, Vitaly V VV; El'chinova, Galina I GI; Dadali, Elena L EL; Mikhailova, Lyudmila K LK; Petrova, Nika V NV; Petrina, Nina E NE; Vasilyeva, Tatyana A TA; Gundorova, Polina P; Polyakov, Alexander V AV; Alexandrova, Oksana Y OY; Kutsev, Sergey I SI; Ginter, Eugeny K EK
Publication Date: 2020-01-03

Variant appearance in text: PAH: 961C>A; L321I
PubMed Link: 31947737
Variant Present in the following documents:
  • Main text
  • ijms-21-00325.pdf
View BVdb publication page