Varaico: Literature-Extracted Genetic Variants

Gene:LTBP1
Variant:p.T147I
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LTBP1

NM_206943.4:p.T147I

Associated Papers

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.

Le Goff C et al.

Nature Genetics, 2008

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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."