Paper Details

Paper Title

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.

Paper Journal Title

Genet Med

Paper Citation Count

Paper Publication Year

2018

Bio Mention

Mesh Descriptor

Author Name	Affiliation
Hannah M Tully	University of Washington
Hannah M Tully	Center for Integrative Brain Research, Seattle Children's Research Institute
Dan Doherty	Center for Integrative Brain Research, Seattle Children's Research Institute
Dan Doherty	University of Washington

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Dataset	Description	Source Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link
Exome Aggregation Consortium	61,486 unrelated exomes	Link

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