Table1_Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.docx Dataset

syn72001383

Data hosted and governed on Synapse.org and Knowledge Portals by Sage Bionetworks. Dataset created from folder syn71999645
Created By NF Service nf-osi-service

doi: 10.3389/fgene.2024.1331278.s001
title: Mutation analysis and clinical profile of South African patients with NF1 phenotype (Table 1)
funder: Other
series: None
creator: Maria Mabyalwa Mudau Bronwyn Dillon Clarice Smal Candice Feben Engela Honey Nadia Carstens Amanda Krause
license: https://creativecommons.org/licenses/by/4.0/
species: Homo sapiens
studyId: syn71998148
dataType: clinical
keywords: Neurofibramotosis type 1 single nucleotide variant (SNV) copy number variants (CNV) next generating sequencing MLPA (multiplex ligation-dependent probe amplification)
accessType: Open Access
diseaseFocus: Neurofibromatosis type 1
dataUseModifiers: General Research Use
externalRepositoryUri: figshare:25478098
includedInDataCatalog: https://nf.synapse.org/Explore/Datasets https://www.synapse.org/DataCatalog:0
croissant_file_s3_object: https://synapse-croissant-metadata.s3.us-east-1.amazonaws.com/Table1_Mutation+analysis+and+clinical+profile+of+South+African+patients+with+Neurofibromatosis+type+1+%28NF1%29+phenotype.docx+Dataset_syn72001383.2_datasetCollection_syn50913342_croissant.jsonld

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