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

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 child wit...

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Detalles Bibliográficos
Autores principales:	Chorin, Odelia, Yachelevich, Naomi, Mohamed, Khaled, Moscatelli, Ilana, Pappas, John, Henriksen, Kim, Evrony, Gilad D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549584/ https://www.ncbi.nlm.nih.gov/pubmed/32691986 http://dx.doi.org/10.1002/mgg3.1405

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