Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E571*
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TSC1

NM_000368.5:p.E571*

Associated Papers

Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

Bolshakova AS et al.

Journal of Clinical Pathology, 2024

WES-based screening of 7,000 newborns: A pilot study in Russia.

Shubina J et al.

Hgg Advances, 2024

39033325 (PubMed )
Supplement: mmc1.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."