Original paper

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Volume: 22, Issue: 3, Pages: 610 - 621
Published: Mar 1, 2020
Abstract
PurposePathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis.MethodsIndividuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published...
Paper Details
Title
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
Published Date
Mar 1, 2020
Volume
22
Issue
3
Pages
610 - 621
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.