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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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Publicado en:Front Genet
Autores principales: Miller, Dustin B., Piccolo, Stephen R.
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2021
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Acceso en línea: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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