Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K121_M122Splc
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TSC1

NM_000368.5:p.K121_M122Splc

Associated Papers

Rare cutaneous association of tuberous sclerosis.

Mustari AP et al.

Clinical and Experimental Dermatology, 2023

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.

Togi S et al.

International Journal of Molecular Sciences, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."