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

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Authors: Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony

Journal title: Molecular Genetics & Genomic Medicine

Journal number: 8/10

Journal publisher: Wiley

Published year: 2020

DOI identifier: 10.1002/mgg3.1405

ISSN: 2324-9269