Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.L406I
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TGFBR1

NM_004612.4:p.L406I

Associated Papers

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM4_ESM.xlsx › stable9

Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.

Pedroza AJ et al.

Jtcvs Open, 2025

Early clinical outcomes and molecular smooth muscle cell phenotyping using a prophylactic aortic arch replacement strategy in Loeys-Dietz syndrome.

Pedroza AJ et al.

The Journal of Thoracic and Cardiovascular Surgery, 2023

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
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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."