Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.W750*
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TSC1

NM_000368.5:p.W750*

Associated Papers

Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.

Muhtaseb AW et al.

Schizophrenia Research, 2024

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1

Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

Luo C et al.

Orphanet Journal of Rare Diseases, 2022

35870981 (PubMed )
Supplement: 13023_2022_2443_MOESM1_ESM.xlsx › tsc1

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.

Turner TJ et al.

Journal of Neurochemistry, 2021

Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models.

Nadadhur AG et al.

Stem Cell Reports, 2019

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC et al.

American Journal of Human Genetics, 1999

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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."