Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1369Q
Back to variants list

TSC2

NM_000548.5:p.R1369Q

Associated Papers

Assessment of cancer predisposition syndromes in children with leukemia and solid tumors: germline-genomic profiling and clinical features in a series of cases.

Singh M et al.

Pediatric Hematology and Oncology, 2024

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Bahl S et al.

Molecular Autism, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."