Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.E169K
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TGFB1

NM_000660.7:p.E169K

Associated Papers

Observations on the Natural History of Camurati-Engelmann Disease.

Hughes P et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Kim YM et al.

Medicine, 2018

Significant Improvement of Clinical Symptoms, Bone Lesions, and Bone Turnover after Long-Term Zoledronic Acid Treatment in Patients with a Severe Form of Camurati-Engelmann Disease.

Baroncelli GI et al.

Molecular Syndromology, 2017

Orthopedic Manifestations of Type I Camurati-Engelmann Disease.

Yuldashev AJ et al.

Clinics in Orthopedic Surgery, 2017

Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease.

Chen Y et al.

Molecular Medicine Reports, 2017

Transforming growth factor-β1 gene mutations and phenotypes in pediatric patients with Camurati‑Engelmann disease.

Wang C et al.

Molecular Medicine Reports, 2013

A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.

Wu S et al.

Bone, 2007

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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."