Varaico: Literature-Extracted Genetic Variants

Gene:TGFB1
Variant:p.R110C
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TGFB1

NM_000660.7:p.R110C

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Gariballa N et al.

Frontiers in Molecular Biosciences, 2020

CADASIL brain vessels show a HTRA1 loss-of-function profile.

Zellner A et al.

Acta Neuropathologica, 2018

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.

Kotlarz D et al.

Nature Genetics, 2018

Novel alleles of the transforming growth factor β-1 regulatory region and exon 1.

Arrieta-Bolaños E et al.

Tissue Antigens, 2015

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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."