Varaico: Literature-Extracted Genetic Variants

Gene:TGFB3
Variant:p.K271N
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TGFB3

NM_003239.5:p.K271N

Associated Papers

Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.

Veatch OJ et al.

Bmc Medical Genomics, 2022

35918752 (PubMed )
Supplement: 12920_2022_1321_MOESM3_ESM.xlsx › Supplemental_Table_3

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.

Verstraeten A et al.

Circulation, 2020

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
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