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A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects

Compound heterozygous (CH) variants occur when two recessive alleles are inherited and the variants are located at different loci within the same gene in a given individual. CH variants are important contributors to many different types of recessively inherited diseases. However, many studies overlo...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Miller, Dustin B., Piccolo, Stephen R.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8019969/
https://ncbi.nlm.nih.gov/pubmed/33828584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.640242
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