Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.L240S
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TOR1A

NM_000113.3:p.L240S

Associated Papers

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Berry JG et al.

Ebiomedicine, 2025

41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Saffari A et al.

Brain : a Journal of Neurology, 2023

36757831 (PubMed )
Supplement: awad039_supplementary_data.zip › brain-2022-01664-File009.xlsx › Supplementary_File_1
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