Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
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Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous DysplasiaUtilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study.Neurofibromatosis Clinical Trial Consortium.In silico clinical trials for pediatric orphan diseases.The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.
P2860
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P2860
Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.
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2015 nî lūn-bûn
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name
Evaluation of somatic mutation ...... s in neurofibromatosis type 1.
@en
Evaluation of somatic mutation ...... s in neurofibromatosis type 1.
@nl
type
label
Evaluation of somatic mutation ...... s in neurofibromatosis type 1.
@en
Evaluation of somatic mutation ...... s in neurofibromatosis type 1.
@nl
prefLabel
Evaluation of somatic mutation ...... s in neurofibromatosis type 1.
@en
Evaluation of somatic mutation ...... s in neurofibromatosis type 1.
@nl
P2093
P2860
P1476
Evaluation of somatic mutation ...... s in neurofibromatosis type 1.
@en
P2093
Allie H Grossmann
David A Stevenson
David H Viskochil
David W Sant
Florent Elefteriou
Heather Hanson
Jonathan J Rios
Melanie D Everitt
Rebecca L Margraf
P2860
P304
P356
10.1136/JMEDGENET-2014-102815
P407
P577
2015-01-22T00:00:00Z