Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.H495_I496delFs
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TSC2

NM_000548.5:p.H495_I496delFs

Associated Papers

Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.

Kommoss FKF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33846547 (PubMed )
Supplement: 41379_2021_804_MOESM1_ESM.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 19.19
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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."