Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.V504_R505delins
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TSC2

NM_000548.5:p.V504_R505delins

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-s182.pdf

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Treichel AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."