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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.H763Y

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TSC2

NM_000548.5:p.H763Y

hg38:chr16:2072915 C>T

Associated Papers

Clinically Silent Seizures in Neonates with Tuberous Sclerosis: An International Case Series.

Curcio AM et al.

Neonatology, 2026

41712515 (PubMed )

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Rosset C et al.

Plos One, 2017

28968464 (PubMed )

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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."