Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.H105R
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TSC1

NM_000368.5:p.H105R

Associated Papers

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S5.xlsx › Supplementary_Table_S5.

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

Pymar LS et al.

Human Molecular Genetics, 2008

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