Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E687delFs
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TSC1

NM_000368.5:p.E687delFs

Associated Papers

A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.

Young JM et al.

Annals of Human Genetics, 1998

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M et al.

Science (new York, N.y.), 1997

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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."