Varaico: Literature-Extracted Genetic Variants

Gene:NPY4R
Variant:p.V276M
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NPY4R

NM_005972.6:p.V276M

Associated Papers

A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2025

41342634 (PubMed )
Supplement: sj-pdf-1-gtm-10.1177_19450265251401002.pdf

Genetic predisposition to immune dysregulation and extracellular matrix remodeling in cardiac arrhythmia reveals potential mediation by SPP1+ macrophages.

Jin JY et al.

Frontiers in Cell and Developmental Biology, 2025

40900730 (PubMed )
Supplement: Table1.xlsx › Table_S2

Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.

Diefenbach RJ et al.

Cancers, 2019

31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2

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
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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."