Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
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DOI: 10.1136/jmg-2023-109747
Abstract: Background Pontocerebellar hypoplasia (PCH) may present with supratentorial phenotypes and is often accompanied by microcephaly. Damaging mutations in the X-linked gene CASK produce self-limiting microcephaly with PCH in females but are often lethal in males.… read more here.
Keywords: genetic evidence; cask protein; function; vertebrate specific ... See more keywords