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

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Desgrouas C et al.

Sub-cellular Biochemistry, 2025

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

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."