Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L319_L320del1
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TSC1

NM_000368.5:p.L319_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

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