Paper Details

Paper Title

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2022

Bio Mention

Glaucoma, MYOC, Mendelian glaucoma, genes, glaucoma, minor allele, myocilin, patients, primary glaucoma

Mesh Descriptor

Author Name	Affiliation
Johanna Hadler	Flinders University, Flinders Medical Centre
Johanna Hadler
Jamie E Craig	Flinders University, Flinders Medical Centre
Alex W Hewitt	Menzies Institute for Medical Research, University of Tasmania
Terri L Young	University of Wisconsin-Madison
David A Mackey	Menzies Institute for Medical Research, University of Tasmania
David A Mackey	Lions Eye Institute, University of Western Australia

1 - 7

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

1 - 15

Paper Details

Column Actions

Datasets