Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R367W
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TSC2

NM_000548.5:p.R367W

Associated Papers

Multimodal framework to resolve variants of uncertain significance in TSC2.

Biar CG et al.

Biorxiv : the Preprint Server for Biology, 2024

38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2

A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.

Qi Y et al.

Frontiers in Pediatrics, 2021

34513752 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.

Yao R et al.

Frontiers in Genetics, 2021

34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1
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