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Arif Mahmood

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Case report Open access Oct 2026

A Novel BORCS5 Loss-Of-Function Variant in a Patient With a Rare Neurodevelopmental Disorder.

BACKGROUND The BORCS5 is an important and critical component of the BLOC-one-related complex (BORC), involved in kinesin-dependent anterograde lysosomal transport. Aberrations in the octameric protein complex encompass lethal neurological manifestations, such as arthrogryposis multiplex congenita, brain malformations a...

Arif Mahmood, A. Shah, Gohar Zaman et al. · 0 citations

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