Biallelic loss‐of‐function variants in...

Human Mutation 2020 / 07

Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

Harms, Frederike L., Parthasarathy, Padmini, Zorndt, Dennis, Alawi, Malik, Fuchs, Sigrid, Halliday, Benjamin J., McKeown, Colina, Sampaio, Hugo, Radhakrishnan, Natasha, Radhakrishnan, Suresh K., Gorce
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Journal:
Human Mutation
DOI:
10.1002/humu.24071
Date:
July, 2020
File:
PDF, 1.37 MB
2020
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