HP c.28C>T ;(p.L10F)

Variant ID: 16-72090082-C-T

NM_005143.3(HP):c.28C>T;(p.L10F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: HP: 28C>T; Leu10Phe
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ
Publication Date: 2019-03

Variant appearance in text: HP: 28C>T
PubMed Link: 30093709
Variant Present in the following documents:
  • nihms-1505461.pdf
View BVdb publication page



Phenotypic susceptibility to bevirimat in isolates from HIV-1-infected patients without prior exposure to bevirimat.

Antimicrobial Agents And Chemotherapy
Margot, Nicolas A NA; Gibbs, Craig S CS; Miller, Michael D MD
Publication Date: 2010-06

Variant appearance in text: HP: L10F
PubMed Link: 20308382
Variant Present in the following documents:
  • Main text
View BVdb publication page