Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R246Splc
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TSC1

NM_000368.5:p.R246Splc

Associated Papers

Identify the origin of de novo variants in TSC patients by ddPCR.

Ni K et al.

Acta Epileptologica, 2025

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.

Ge Y et al.

Frontiers in Medicine, 2025

Tuberous Sclerosis Complex: Early Screening and Infant Outcome in NICU.

Su Y et al.

Journal of Tropical Pediatrics, 2021

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf
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