Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
about
Skeletal muscle and motor deficits in Neurofibromatosis Type 1.Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.Loss-of-function NF1 variants don't stimulate RAS GTPase activityMosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1
P2860
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P2860
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
description
2011 nî lūn-bûn
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2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
@ast
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
@en
type
label
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
@ast
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
@en
prefLabel
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
@ast
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
@en
P2093
P2860
P50
P356
P1476
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
@en
P2093
Claire Eudall
Eric Legius
Gill Spurlock
Hilde Brems
Matthew Mort
Meena Upadhyaya
Nick S Thomas
Stephen E Hamby
P2860
P2888
P304
P356
10.1038/EJHG.2011.207
P577
2011-11-23T00:00:00Z
P5875
P6179
1014359314