Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L320del1
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TSC1

NM_000368.5:p.L320del1

Associated Papers

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.

Bard AM et al.

American Journal of Medical Genetics. Part A, 2024

Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.

Bard AM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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
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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."