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K. Muzammil

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Case report Aug 2026

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing

Tetratricopeptide Repeat Domain 14 plays a crucial role in RNA metabolism during neurodevelopment, and that the p.His30Arg variant impairs its function, possibly leading to a neurodevelopmental disorder within the lissencephaly spectrum.

S. R. Ahmad, M. Zeyaullah, Mohammad Suhail Khan et al. · 0 citations