Varaico: Literature-Extracted Genetic Variants

Gene:XPNPEP3
Variant:p.R415Q
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XPNPEP3

NM_022098.4:p.R415Q

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.

Lazaro-Guevara J et al.

American Journal of Nephrology, 2021

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Zahir FR et al.

Bmc Genomics, 2017

28539120 (PubMed )
Supplement: 12864_2017_3671_MOESM8_ESM.xlsx › Patient_55
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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."