PAH c.781C>G ;(p.R261G)

Variant ID: 12-103246654-G-C

NM_000277.1(PAH):c.781C>G;(p.R261G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data.

Genes
Toncheva, Draga D; Marinova, Maria M; Chobanov, Todor T; Serbezov, Dimitar D
Publication Date: 2023-03-16

Variant appearance in text: rs5030850
PubMed Link: 36980999
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Journal Of Personalized Medicine
Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2022-07-12

Variant appearance in text: rs5030850
PubMed Link: 35887629
Variant Present in the following documents:
  • jpm-12-01132.pdf
View BVdb publication page



Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA.

Plos One
Toncheva, Draga D; Marinova, Maria M; Borovska, Plamenka P; Serbezov, Dimitar D
Publication Date: 2022

Variant appearance in text: rs5030850
PubMed Link: 35749392
Variant Present in the following documents:
  • Main text
  • pone.0269628.pdf
View BVdb publication page



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: Arg261Gly
PubMed Link: 26666653
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_375.pdf
View BVdb publication page



Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

Sultan Qaboos University Medical Journal
Al-Shamsi, Aisha A; Hertecant, Jozef L JL; Al-Hamad, Sania S; Souid, Abdul-Kader AK; Al-Jasmi, Fatma F
Publication Date: 2014-02

Variant appearance in text: PAH: R261G
PubMed Link: 24516753
Variant Present in the following documents:
  • Main text
View BVdb publication page