Varaico: Literature-Extracted Genetic Variants

Gene:RGPD1
Variant:p.D1373Y
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RGPD1

NM_001382344.1:p.D1373Y

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease.

Zhang Q et al.

Heliyon, 2024

38163100 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.

Sakuma I et al.

Communications Biology, 2023

37507476 (PubMed )
Supplement: 42003_2023_5160_MOESM7_ESM.xlsx › validated_by_Mutalyzer
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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."