Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L104L
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TSC2

NM_000548.5:p.L104L

Associated Papers

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

Klonowska K et al.

The Journal of Clinical Investigation, 2022

35358092 (PubMed )
Supplement: jci-132-155858-s188.xlsx › Supplemental_Table_5.1.

A reliable cell-based assay for testing unclassified TSC2 gene variants.

Coevoets R et al.

European Journal of Human Genetics : Ejhg, 2009

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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."