Varaico: Literature-Extracted Genetic Variants

Gene:PRDM6
Variant:p.A291T
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PRDM6

NM_001136239.4:p.A291T

Associated Papers

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_05
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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."