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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.A1742_K1748del0

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TSC2

NM_000548.5:p.A1742_K1748del0

hg38:chr16:2088291 CCCGGCTCCGCCACATCAA>C

Associated Papers

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Watson D et al.

American Journal of Medical Genetics. Part A, 2025

39888183 (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."