Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.I72L
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TGFBR1

NM_004612.4:p.I72L

Associated Papers

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

Weerakkody RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

van de Luijtgaarden KM et al.

Human Genetics, 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."