Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L317M
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TSC1

NM_000368.5:p.L317M

Associated Papers

A family case with germline TSC1 and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis.

Sakamoto H et al.

Journal of Clinical Pathology, 2018

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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."