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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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Detalles Bibliográficos
Autores principales: Miller, Dustin B., Piccolo, Stephen R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8019969/
https://www.ncbi.nlm.nih.gov/pubmed/33828584
http://dx.doi.org/10.3389/fgene.2021.640242