Associated Papers
MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.
Ghafar SFA et al.
Clinical Genetics, 2025
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Ucuncu E et al.
Nature Communications, 2020
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