Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.L124L
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TWIST1

NM_000474.4:p.L124L

Associated Papers

Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer.

Roperch JP et al.

Bmc Cancer, 2016

Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.

Gallo LH et al.

Cytokine & Growth Factor Reviews, 2015

Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses.

Hafner C et al.

The Journal of Investigative Dermatology, 2007

FGFR3 mutations in benign skin tumors.

Hafner C et al.

Cell Cycle (georgetown, Tex.), 2006

High frequency of FGFR3 mutations in adenoid seborrheic keratoses.

Hafner C et al.

The Journal of Investigative Dermatology, 2006

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Hafner C et al.

The Journal of Clinical Investigation, 2006

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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."