Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.A424V
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SMAD6

NM_005585.5:p.A424V

Associated Papers

Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.

Gold JI et al.

American Journal of Human Genetics, 2025

40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.

Gold J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
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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."