Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.R75Q
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SMAD6

NM_005585.5:p.R75Q

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Integrating rare pathogenic variant prioritization with gene-based association analysis to identify novel genes and relevant multimodal traits for Alzheimer's disease.

Cao J et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

39713882 (PubMed )
Supplement: ALZ-21-e14444-s002.xlsx › Table_S6
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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."