Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants Dataset

syn72001376

Data hosted and governed on Synapse.org and Knowledge Portals by Sage Bionetworks. Dataset created from folder syn71999647
Created By NF Service nf-osi-service

doi: 10.6084/m9.figshare.9877415.v1
title: Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia (supplementary data)
funder: Other
series: None
creator: Guanghui Zhu Yu Zheng Yaoxi Liu An Yan Zhengmao Hu Yongjia Yang Shiting Xiang Liping Li Weijian Chen Yu Peng
license: https://creativecommons.org/licenses/by/4.0/
species: Homo sapiens
studyId: syn71998148
dataType: clinical germline variants
keywords: Neurofibromatosis 1 Whole exome sequencing Genomic variation Genotype Phenotype
accessType: Open Access
description: Additional files for congenital pseudarthrosis of the tibia study including NF1 variant types across clinical features.
diseaseFocus: Neurofibromatosis type 1
dataUseModifiers: General Research Use
externalRepositoryUri: figshare:9877415
includedInDataCatalog: https://nf.synapse.org/Explore/Datasets https://www.synapse.org/DataCatalog:0
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