Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.K914_G915Splc
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TSC2

NM_000548.5:p.K914_G915Splc

Associated Papers

Identification of a novel TSC1 gene variant in a patient with atypical vitiligo-like skin lesions: Unveiling the hidden tuberous sclerosis complex.

Liu L et al.

Molecular Genetics & Genomic Medicine, 2024

The TSC2 c.2742+5G>A variant causes variable splicing changes and clinical manifestations in a family with tuberous sclerosis complex.

Fan K et al.

Frontiers in Molecular Neuroscience, 2023

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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."