Varaico: Literature-Extracted Genetic Variants

Gene:TGFBR1
Variant:p.Q35*
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TGFBR1

NM_004612.4:p.Q35*

Associated Papers

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Carmignac V et al.

American Journal of Human Genetics, 2012

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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."