Article

Domain specific phenotypic expansion associated with variants in<i>MACF1</i>

2025-06-28

Abstract excerpt

<h4>Purpose</h4> While heterozygous de novo missense variants in the microtubule-binding GAR domain of Microtubule-actin cross-linking factor 1 ( MACF1 ) cause Lissencephaly 9 with Complex Brainstem Malformations [MIM #618325], the phenotypic impact of variants outside this domain remains unclear. <h4>Methods</h4> Through collaborative efforts, we assembled a cohort of 10 affected individuals from 8 unrelated fami...

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Literature Corpus work: 2715b983-3da3-5800-8d28-b5d0bcfd9fb6
DOI: 10.1101/2025.06.26.25330137

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