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UnknownExpanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Not available
S-EPMC7898547 | biostudies-literature
UnknownCardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Not available
S-EPMC6812045 | biostudies-literature
UnknownBiallelic variants in KIF14 cause intellectual disability with microcephaly.
Not available
S-EPMC5839044 | biostudies-literature
UnknownClinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Not available
S-EPMC11400611 | biostudies-literature
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