Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.P223delFs
Back to variants list

SMAD3

NM_005902.4:p.P223delFs

Associated Papers

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Chesneau B et al.

Molecular Genetics & Genomic Medicine, 2020

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Hostetler EM et al.

Journal of Medical Genetics, 2019

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Schepers D et al.

Human Mutation, 2018

A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.

Courtois A et al.

European Journal of Medical Genetics, 2017

A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Zhang W et al.

Biomed Research International, 2015

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.

Aubart M et al.

Plos One, 2014

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."