Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R246fs
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TSC1

NM_000368.5:p.R246fs

Associated Papers

Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.

Yarali O et al.

Journal of Neurogenetics, 2024

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Rosengren T et al.

Scientific Reports, 2020

32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf
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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."