Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.S1466*
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TSC2

NM_000548.5:p.S1466*

Associated Papers

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Biallelic TSC gene inactivation in tuberous sclerosis complex.

Crino PB et al.

Neurology, 2010

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

Choi JE et al.

Brain & Development, 2006

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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."