Advancing RAS/RASopathy Therapies (ART): An NCI-sponsored Intramural and Extramural Collaboration for the study of RASopathies

RASopathies caused by germline pathogenic variants in genes that encode RAS pathway proteins. These disorders include neurofibromatosis type 1 (NF1), Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), and Costello syndrome (CS), and others. RASopathies are characterized by heterogenous manif...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Gross, Andrea M., Frone, Megan, Gripp, Karen W., Gelb, Bruce D., Schoyer, Lisa, Lisa Schill, Stronach, Beth, Biesecker, Leslie G., Esposito, Dominic, Hernandez, Edjay Ralph, Legius, Eric, Loh, Mignon L., Martin, Staci, Morrison, Deborah K., Rauen, Katherine A., Wolters, Pamela L., Zand, Dina, McCormick, Frank, Savage, Sharon A., Stewart, Douglas R., Widemann, Brigitte C., Yohe, Marielle E.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7456498/
https://ncbi.nlm.nih.gov/pubmed/31913576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61485
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