Paper Details

Paper Title

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Paper Journal Title

Genet Med

Paper Citation Count

Paper Publication Year

2020

Bio Mention

AR, AR conditions, AR-CNVs, CNV, CNVs, SNV, alleles, autosomal recessive (AR) conditions, autosomal recessive genetic diseases, exonic level copy-number variants, genomic disorders, homozygous genomic intervals, indel, intact allele, multiexon partial, multiexon partial-gene events, neurodevelopmental disorders, single-exon, single-nucleotide variant

Mesh Descriptor

Author Name	Affiliation
Pengfei Liu	Baylor College of Medicine
Pengfei Liu
Linyan Meng	Baylor College of Medicine
Linyan Meng
Donna M Muzny	Baylor College of Medicine
Donna M Muzny	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Richard A Gibbs	Baylor College of Medicine
Arthur L Beaudet	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
Weimin Bi	Baylor College of Medicine
Weimin Bi

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