Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.Q112_G113Splc
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TSC2

NM_000548.5:p.Q112_G113Splc

Associated Papers

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Coleman M et al.

Brain Communications, 2025

39926610 (PubMed )
Supplement: fcaf034_supplementary_data.pdf

Eosinophilic solid and cystic renal cell carcinoma and renal cell carcinomas with TFEB alterations: a comparative study.

Lobo J et al.

Histopathology, 2022

Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.

Yamamoto T et al.

Brain & Development, 2002

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