Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K629fs
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TSC1

NM_000368.5:p.K629fs

Associated Papers

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.

Praticò AD et al.

Scientific Reports, 2025

40579409 (PubMed )
Supplement: 41598_2025_4718_MOESM1_ESM.xlsx › Foglio1

Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Krane M et al.

Circulation, 2021

34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1D_WES_results_PCGC_cohort

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2

Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Wilson GD et al.

Oncotarget, 2018

29899834 (PubMed )
Supplement: oncotarget-09-25957-s003.xlsx › ST2_GeneVar_Mets
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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."