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Annals_of_Neurology_-_2022_-_Calame_-_Biallelic_Variants_in_the_Ectonucleotidase_ENTPD1_Cause_a_Complex_Neurodevelopmental
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Biallelic Variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia
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2024
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