Data related to article Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149 p.Arg1276 and p.Lys1423 genotype-phenotype study in neurofibromatosis type 1 Dataset

syn72001373

Data hosted and governed on Synapse.org and Knowledge Portals by Sage Bionetworks. Dataset created from folder syn71999558
Created By NF Service nf-osi-service

doi: 10.5281/zenodo.4688881
title: Clinical spectrum of individuals with NF1 missense variants (supplementary data)
funder: Other
series: None
creator: Marica Eoli
license: https://creativecommons.org/licenses/by/4.0/
species: Homo sapiens
studyId: syn71998148
dataType: clinical germline variants
keywords: Neurofibromatosis 1 Genotype- Phenotype correlation
accessType: Open Access
description: Supplement to Eoli et al.: genotype–phenotype correlations for NF1 missense variants p.Met1149, p.Arg1276, p.Lys1423.
diseaseFocus: Neurofibromatosis type 1
dataUseModifiers: General Research Use
externalRepositoryUri: zenodo:4688881
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/Data+related+to+article+Clinical+spectrum+of+individuals+with+pathogenic+NF1+missense+variants+affecting+p.Met1149+p.Arg1276+and+p.Lys1423+genotype-phenotype+study+in+neurofibromatosis+type+1+Dataset_syn72001373.2_datasetCollection_syn50913342_croissant.jsonld

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