Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.H776Q
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TSC1

NM_000368.5:p.H776Q

Associated Papers

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL et al.

American Journal of Human Genetics, 2001

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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."