Varaico: Literature-Extracted Genetic Variants

Gene:ROBO3
Variant:p.G608S
Back to variants list

ROBO3

NM_022370.4:p.G608S

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

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.

Wang J et al.

Pediatric Research, 2024

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

Wang J et al.

Frontiers in Pediatrics, 2022

A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.

Erdos MR et al.

Nature Medicine, 2021

Genomic instability and DNA replication defects in progeroid syndromes.

Burla R et al.

Nucleus (austin, Tex.), 2018

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

Kang SM et al.

Bmb Reports, 2018

Hutchinson-Gilford progeria syndrome.

Ullrich NJ et al.

Handbook of Clinical Neurology, 2015

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

Normal and aberrant splicing of LMNA.

Luo YB et al.

Journal of Medical Genetics, 2014

A conserved splicing mechanism of the LMNA gene controls premature aging.

Lopez-Mejia IC et al.

Human Molecular Genetics, 2011

Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.

Dechat T et al.

Genes & Development, 2008

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

Shackleton S et al.

Journal of Medical Genetics, 2005

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

Fukuchi K et al.

Journal of Medical Genetics, 2004

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Eriksson M et al.

Nature, 2003

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Cao H et al.

Journal of Human Genetics, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."