Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R336W
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TSC1

NM_000368.5:p.R336W

Associated Papers

Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges.

Guerreiro S et al.

Cells, 2023

Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.

Cooper AJ et al.

Jto Clinical and Research Reports, 2022

36118132 (PubMed )
Supplement: mmc2.docx

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments.

Wundrach D et al.

Frontiers in Molecular Neuroscience, 2020

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table

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

Bahl S et al.

Molecular Autism, 2013

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Kelleher RJ et al.

Plos One, 2012

22558107 (PubMed )
Supplement: pone.0035003.s004.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."