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

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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Bibliographic Details
Main Authors: Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CLCN7
osteopetrosis
RNA‐sequencing
transcriptomics
undiagnosed diseases
Online Access:https://doi.org/10.1002/mgg3.1405

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