Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.K914fs
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TSC2

NM_000548.5:p.K914fs

Associated Papers

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.

West HD et al.

Human Mutation, 2023

40225170 (PubMed )
Supplement: 4899372.f1.zip › SupplTables_30523.pdf
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