Varaico: Literature-Extracted Genetic Variants

Gene:TGFB2
Variant:p.P379L
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TGFB2

NM_001135599.4:p.P379L

Associated Papers

Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Chmielewski P et al.

Kardiologia Polska, 2023

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.

Ponińska JK et al.

Journal of Translational Medicine, 2022

35078481 (PubMed )
Supplement: 12967_2022_3251_MOESM1_ESM.pdf

Whole Genome Sequencing Unravels New Genetic Determinants of Early-Onset Familial Osteoporosis and Low BMD in Malta.

Cilia C et al.

Genes, 2022

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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."