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Paper Details

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
3
2023
Author NameAffiliation
Richard S FinkelNemours Children's Hospital
Francesco MuntoniNIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust
James M PolkeNational Hospital for Neurology and Neurosurgery
Stephan Z??chnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine
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Datasets

ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar is a freely accessible, public archive of submitted reports about the relationships among human variations and phenotypes, with supporting evidence.Link
ClinVarClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, publLink