Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.T623S
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ROBO3

NM_022370.4:p.T623S

Associated Papers

Unraveling the mysteries of Hutchinson-Gilford progeria syndrome: a comprehensive review of LMNA gene mutations.

Zhou X et al.

Biogerontology, 2025

Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging.

Trani JP et al.

Life Science Alliance, 2022

MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells.

Harhouri K et al.

Cells, 2022

Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.

Wang J et al.

Frontiers in Pediatrics, 2022

Laminopathies; Mutations on single gene and various human genetic diseases.

Kang SM et al.

Bmb Reports, 2018

Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients.

Vautrot V et al.

Human Mutation, 2016

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Barthélémy F et al.

European Journal of Human Genetics : Ejhg, 2015

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

Fukuchi K et al.

Journal of Medical Genetics, 2004

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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."