Article

Distinct genetic etiologies with overlapping neurodevelopmental phenotypes: a two-case series involving GNAI1 and CHAMP1 variants

2025-12-02

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Neurodevelopmental disorders (NDDs) comprise a genetically heterogeneous group of conditions characterized by global developmental delay, epilepsy and behavioral abnormalities. Advances in next-generation sequencing have expanded the number of genes implicated in NDDs, including <italic>GNAI1</italic> and <italic>CHAMP1</italic> , which act through distinc...

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Literature Corpus work: 1b284401-bea2-5a15-aec5-a57f8aab7883
DOI: 10.21203/rs.3.rs-8242970/v1

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Distinct genetic etiologies with overlapping neurodevelopmental phenotypes: a two-case series involving GNAI1 and CHAMP1 variantsDOI 10.21203/rs.3.rs-8242970/v1Read

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