Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis

Abstract Background Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA‐based genetic testing. As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of these unsolved cases, we studied a c...

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Autori principali:	Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2020-10-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	CLCN7 osteopetrosis RNA‐sequencing transcriptomics undiagnosed diseases
Accesso online:	https://doi.org/10.1002/mgg3.1405
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