Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.V187I
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HPGDS

NM_014485.3:p.V187I

Associated Papers

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex

Unilateral cryptorchidism in mice mutant for Ptgds.

Philibert P et al.

Human Mutation, 2013

Hematopoietic prostaglandin D synthase (HPGDS): a high stability, Val187Ile isoenzyme common among African Americans and its relationship to risk for colorectal cancer.

Tippin BL et al.

Prostaglandins & Other Lipid Mediators, 2012

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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."