about
The NF1 somatic mutational landscape in sporadic human cancers.Turning the tide in myelodysplastic/myeloproliferative neoplasms.A review of craniofacial and dental findings of the RASopathies.RAS Proteins and Their Regulators in Human Disease.Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis.Oligodendrocyte RasG12V expressed in its endogenous locus disrupts myelin structure through increased MAPK, nitric oxide, and notch signaling.KRAS Alleles: The Devil Is in the Detail.RASopathies are associated with a distinct personality profile.Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome.Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.Update on Genetic Conditions Affecting the Skin and the Kidneys.ClinGen's RASopathy Expert Panel consensus methods for variant interpretationRAS variant signallingDe Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
P2860
Q33823452-413AC783-D863-46B5-921A-09214B0DC9C2Q38712988-A201D6E6-3B84-434A-83F0-9F2A8EB5B4FCQ39393792-0AEA4EBD-F9C4-490F-ABBE-B72150CFC469Q39407402-46897B5E-5DF9-48B9-97DD-7DE07B9EE6C2Q46199306-BF15AE4C-82E8-4E3E-B4FA-BF1926B96811Q48133236-8FCBEFED-4D53-4DE9-8A2B-5BE84C6780B8Q49668169-4B6186FF-02FD-45EA-BDE6-4B01A824F527Q52320476-5956FB3A-872A-48B8-9461-72AD893D57B1Q52579005-7507F186-1DD7-4B24-99EB-1CD4D6AFF4E0Q52957856-A4FDCDCB-7F48-4941-8C20-2CD256EA669BQ54974212-2DCC9695-618E-4333-A5B5-2DA64AD431B3Q55140325-466F35D9-AEB3-4C7B-AF22-AC740C99952DQ56476282-EA773A5B-127E-4E0E-95D3-9E87CC5F444CQ57033842-BF62EEE1-C85A-4348-A803-1EEA35506DF7Q57761594-9ED64801-8D39-43FB-B081-35E02AA10D7F
P2860
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Pathogenetics of the RASopathies.
@en
Pathogenetics of the RASopathies.
@nl
type
label
Pathogenetics of the RASopathies.
@en
Pathogenetics of the RASopathies.
@nl
prefLabel
Pathogenetics of the RASopathies.
@en
Pathogenetics of the RASopathies.
@nl
P2860
P356
P1476
Pathogenetics of the RASopathies
@en
P2093
Katherine A Rauen
William E Tidyman
P2860
P304
P356
10.1093/HMG/DDW191
P577
2016-07-12T00:00:00Z