Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family
Crossref DOI link: https://doi.org/10.1007/s11033-018-4194-8
Published Online: 2018-06-20
Published Print: 2018-08
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Khan, Muhammad Aman
Ullah, Aman
Naeem, Muhammad http://orcid.org/0000-0002-3894-3085
Text and Data Mining valid from 2018-06-20
Article History
Received: 29 March 2018
Accepted: 16 May 2018
First Online: 20 June 2018
Compliance with ethical standards
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: The authors declare that there is no conflict of interest.