Varaico: Literature-Extracted Genetic Variants

Gene:SMAD9
Variant:p.M1I
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SMAD9

NM_001127217.3:p.M1I

Associated Papers

Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.

Su JY et al.

Elife, 2025

39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable

Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension.

Wang XJ et al.

The European Respiratory Journal, 2019

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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."