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UnknownPathogenic Variants in GPC4 Cause Keipert Syndrome.
Not available
S-EPMC6507040 | biostudies-literature
UnknownA MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Not available
S-EPMC8440635 | biostudies-literature
UnknownFurther delineation of the SCAF4-associated neurodevelopmental disorder.
Not available
S-EPMC12048650 | biostudies-literature
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