Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
scientific article published on 25 December 2018
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author: Lihadh Al-Gazali, Abolfazl Rad, Federico A Santoni, Christopher Richmond, Miriam Schmidts, Christine M. Eng, Francesco Vetrini, Anna Rajab, Stylianos E. Antonarakis, Ehsan Ghayoor Karimiani, Reza Maroofian
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