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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFBR2

Variant:p.T421N

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TGFBR2

NM_003242.6:p.T421N

hg38:chr3:30674112 C>A

Associated Papers

Spontaneous pneumothorax can be associated with TGFBR2 mutation.

Chambers JE et al.

The European Respiratory Journal, 2015

26493799 (PubMed )

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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."