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Paper Details

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
1
2023
Author NameAffiliation
Lorne ClarkeUniversity of British Columbia
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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