Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.W204*
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SIX3

NM_005413.4:p.W204*

Associated Papers

Case report: A gain-of-function of hamartin may lead to a distinct "inverse TSC1-hamartin" phenotype characterized by reduced cell growth.

Praticò AD et al.

Frontiers in Pediatrics, 2023

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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."