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UnknownBiallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Not available
S-EPMC10690011 | biostudies-literature
UnknownExpanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Not available
S-EPMC11065596 | biostudies-literature
UnknownBi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Not available
S-EPMC10806450 | biostudies-literature
UnknownA reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Not available
S-EPMC9502070 | biostudies-literature
UnknownSLK is mutated in individuals with a neurodevelopmental disorder.
Not available
S-EPMC12139437 | biostudies-literature
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