Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q711R
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TSC1

NM_000368.5:p.Q711R

Associated Papers

Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids.

Han X et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39556706 (PubMed )
Supplement: ADVS-12-2406849-s001.zip › Table_S13.xlsx › variant_of_asd

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China.

Liu Y et al.

Frontiers in Genetics, 2023

38028594 (PubMed )
Supplement: Table3.XLSX › Sheet1

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

He KY et al.

Plos One, 2016

27930734 (PubMed )
Supplement: pone.0167847.s002.xls › S2

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A07G-01A.domain
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