Varaico: Literature-Extracted Genetic Variants

Gene:PRDM6
Variant:p.I262V
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PRDM6

NM_001136239.4:p.I262V

Associated Papers

Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.

Rueda-Gaitán P et al.

Frontiers in Pediatrics, 2025

40918675 (PubMed )
Supplement: Table1.xlsx › VARIANTS

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

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
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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."