Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: DUSP6: N189S; rs143946794
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
American Journal Of Human Genetics
Miraoui, Hichem H; Dwyer, Andrew A AA; Sykiotis, Gerasimos P GP; Plummer, Lacey L; Chung, Wilson W; Feng, Bihua B; Beenken, Andrew A; Clarke, Jeff J; Pers, Tune H TH; Dworzynski, Piotr P; Keefe, Kimberley K; Niedziela, Marek M; Raivio, Taneli T; Crowley, William F WF; Seminara, Stephanie B SB; Quinton, Richard R; Hughes, Virginia A VA; Kumanov, Philip P; Young, Jacques J; Yialamas, Maria A MA; Hall, Janet E JE; Van Vliet, Guy G; Chanoine, Jean-Pierre JP; Rubenstein, John J; Mohammadi, Moosa M; Tsai, Pei-San PS; Sidis, Yisrael Y; Lage, Kasper K; Pitteloud, Nelly N
Publication Date: 2013-05-02
Variant appearance in text: DUSP6: 566A>G; Asn189Ser