Hypothesis

2 Matching Annotations

Last 7 days
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
  
  PMID: 32428220
  
  Gene: GDAP2
  
  HGNCID: HGNC:18010
  
  PMID:32428220 Gene:GDAP2 HGNC:18010 inferred_gene_hgnc:18010 inferred_gene_source:hgnc_tag UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
  
  PMID: 32428220
  
  Gene: GDAP2
  
  HGNCID: HGNC:18010
  
  PMID:32428220 Gene:GDAP2 HGNC:18010 inferred_gene_hgnc:18010 inferred_gene_source:hgnc_tag UNC Biocuration Core
Visit annotations in context

Tags

inferred_gene_source:hgnc_tag

Gene:GDAP2

HGNC:18010

inferred_gene_hgnc:18010

UNC Biocuration Core

PMID:32428220

Annotators

ClingenBaseline

URL

pmc.ncbi.nlm.nih.gov/articles/PMC7296852/