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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family by Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi
Published 2020-10-01
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Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis by Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh‐Gharehdaghi, Masoud Garshasbi
Published 2020-03-01
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