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Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

Crossref DOI link: https://doi.org/10.1186/s12881-017-0506-4

Published Online: 2017-12-13

Published Print: 2017-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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