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NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
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NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 01 06; 29(21):3516-3531.
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subject areas
Acid Anhydride Hydrolases
Alleles
Animals
Child, Preschool
Female
Humans
Infant
Intellectual Disability
Male
Mice
Microcephaly
Muscle Hypotonia
Mutation
Neurodevelopmental Disorders
Pedigree
Phenotype
Phosphoric Monoester Hydrolases
authors with profiles
RICHARD GIBBS
JAMES LUPSKI