Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.I1747_Q1752del0
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TSC2

NM_000548.5:p.I1747_Q1752del0

Associated Papers

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.

Qin Y et al.

Bmc Medical Genomics, 2023

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.

Togi S et al.

International Journal of Molecular Sciences, 2022

36232477 (PubMed )
Supplement: ijms-23-11175-s001.zip › Table_S1_TSC_Japan_dataset_2022_v3.xlsx › TSC_Japan_dataset
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