Paper Details

Paper Title

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

Paper Journal Title

Eur J Hum Genet

Paper Citation Count

Paper Publication Year

2023

Bio Mention

Mesh Descriptor

Author Name	Affiliation
Casie A Genetti	Boston Children's Hospital
Casie A Genetti	The Manton Center for Orphan Disease Research, Boston Children's Hospital
Jill A Madden	Boston Children's Hospital
Jill A Madden	Boston Children's Hospital
Jill A Madden	The Manton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A Brownstein	Boston Children's Hospital
Catherine A Brownstein	Harvard Medical School
Catherine A Brownstein	The Manton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A Brownstein	Boston Children's Hospital
Catherine A Brownstein	The Manton Center for Orphan Disease Research, Boston Children's Hospital
Catherine A Brownstein	Harvard Medical School
Alan H Beggs	Boston Children's Hospital
Alan H Beggs	The Manton Center for Orphan Disease Research, Boston Children's Hospital
Alan H Beggs	Harvard Medical School
Alan H Beggs	Broad Institute of MIT and Harvard
Pankaj B Agrawal	Boston Children's Hospital
Pankaj B Agrawal	Boston Children's Hospital
Pankaj B Agrawal	The Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B Agrawal	Harvard Medical School
Pankaj B Agrawal	Broad Institute of MIT and Harvard

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