Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.R1474delFs
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TSC2

NM_000548.5:p.R1474delFs

Associated Papers

Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.

Marouane A et al.

European Journal of Pediatrics, 2022

34347148 (PubMed )
Supplement: 431_2021_4213_MOESM3_ESM.xlsx › Supplementary_table_3b

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.

Zhang N et al.

Frontiers in Genetics, 2020

33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Liu J et al.

Plos One, 2019

31856217 (PubMed )
Supplement: pone.0226400.s008.xlsx › Sheet1

Prenatal magnetic resonance imaging, ultrasound imaging findings and genetic analysis of concomitant rhabdomyomas and cerebral tuberous sclerosis.

Chen CP et al.

Taiwanese Journal of Obstetrics & Gynecology, 2009

Intrafamilial phenotypic variability in tuberous sclerosis complex.

Lyczkowski DA et al.

Journal of Child Neurology, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."