Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.V78L
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TSC2

NM_000548.5:p.V78L

Associated Papers

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.

Kovesdi E et al.

Genes, 2021

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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."