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Article
Coolen, Marion;
Altin, Nami;
Rajamani, Karthyayani;
Pereira, Eva;
Siquier-Pernet, Karine;
Lombardi, Emilia Puig;
Moreno, Nadjeda;
... Cantagrel, Vincent; + view all
(2022)
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
American Journal of Human Genetics (AJHG)
, 109
(5)
pp. 909-927.
10.1016/j.ajhg.2022.03.010.
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