Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.H1746Q
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TSC2

NM_000548.5:p.H1746Q

Associated Papers

Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children.

Wang GX et al.

Genetics and Molecular Research : Gmr, 2013

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y et al.

Human Mutation, 1999

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

Beauchamp RL et al.

Human Mutation, 1998

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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."