Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: KRAS: V152G; rs104894367
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant.
Journal Of Pediatric Genetics
Rodríguez, Fernando F; Vallejos, Carla C; Bolanos-Garcia, Víctor M VM; Ponce, Diana D; Unanue, Nancy N; Garay, Francisco F; Cassorla, Fernando F; Aracena, Mariana M
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Journal Of Medical Genetics
Zenker, Martin M; Lehmann, Katarina K; Schulz, Anna Leana AL; Barth, Helmut H; Hansmann, Dagmar D; Koenig, Rainer R; Korinthenberg, Rudolf R; Kreiss-Nachtsheim, Martina M; Meinecke, Peter P; Morlot, Susanne S; Mundlos, Stefan S; Quante, Anne S AS; Raskin, Salmo S; Schnabel, Dirk D; Wehner, Lars-Erik LE; Kratz, Christian P CP; Horn, Denise D; Kutsche, Kerstin K
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
American Journal Of Human Genetics
Carta, Claudio C; Pantaleoni, Francesca F; Bocchinfuso, Gianfranco G; Stella, Lorenzo L; Vasta, Isabella I; Sarkozy, Anna A; Digilio, Cristina C; Palleschi, Antonio A; Pizzuti, Antonio A; Grammatico, Paola P; Zampino, Giuseppe G; Dallapiccola, Bruno B; Gelb, Bruce D BD; Tartaglia, Marco M