Paper Details

Paper Title

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2017

Bio Mention

ASXL1, ASXL1 truncating, ASXL1 variants, BOS, Bohring-Opitz Syndrome, Bohring-Opitz syndrome, autosomal dominant conditions, developmental delay, dysmorphic features, failure to thrive, germline, hematopoietic, patient, seizures

Mesh Descriptor

Author Name	Affiliation
Anne O'Donnell-Luria	Massachusetts General Hospital
Anne O'Donnell-Luria	Boston Children's Hospital
Anne O'Donnell-Luria	Broad Institute
Anne O'Donnell-Luria	Massachusetts General Hospital
Anne O'Donnell-Luria	Broad Institute
Anne O'Donnell-Luria	Boston Children's Hospital
Beryl B Cummings	Massachusetts General Hospital
Beryl B Cummings	Harvard Medical School
Beryl B Cummings	Broad Institute
Ben Weisburd	Massachusetts General Hospital
Ben Weisburd	Broad Institute
Ben Weisburd	Massachusetts General Hospital
Ben Weisburd	Broad Institute
Eric Vallabh Minikel	Massachusetts General Hospital
Eric Vallabh Minikel	Harvard Medical School
Eric Vallabh Minikel	Broad Institute
Daniel Birnbaum	Massachusetts General Hospital
Daniel Birnbaum	Broad Institute
Daniel G MacArthur	Massachusetts General Hospital
Daniel G MacArthur	Broad Institute
Daniel G MacArthur	Massachusetts General Hospital
Daniel G MacArthur	Broad Institute

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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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