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Biallelic Hypomorphic Mutations in HEATR5B, Encoding HEAT Repeat-Containing Protein 5B, in a Neurological Syndrome with Pontocerebellar Hypoplasia

Shereen G. Ghosh, Martin W. Breuss,Zinayida Schlachetzki,Guoliang Chai,Danica Ross, Valentina Stanley,F. Mujgan Sonmez,Haluk Topaloglu,Maha S. Zaki,Heba Hosny, Shaimaa Gad,Joseph G. Gleeson

European journal of human genetics（2021）

Cited 7|Views22
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Key words
Neurodevelopmental disorders,Neurological disorders,Biomedicine,general,Human Genetics,Bioinformatics,Gene Expression,Cytogenetics
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