Paper Details

Skip to Main Content

Paper Title

Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.

Paper Journal Title

Eur J Hum Genet

Paper Citation Count

15

Paper Publication Year

2019

Bio Mention

Mesh Descriptor

Author Name	Affiliation
Linnea M Baudhuin	Mayo Clinic

1 - 1

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