Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.R1482P
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MTOR

NM_004958.4:p.R1482P

Associated Papers

Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.

Raski CR et al.

American Journal of Medical Genetics. Part A, 2025

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.

Liu AC et al.

Hgg Advances, 2024

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