Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L458L
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TSC2

NM_001318829.2:p.L458L

Associated Papers

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.

Dufner-Almeida LG et al.

Genes, 2024

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.

Zhang H et al.

Heliyon, 2024

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