Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA6
Variant:p.A73V
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SERPINA6

NM_001756.4:p.A73V

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Cortisol, Stress, and Disease-Bidirectional Associations; Role for Corticosteroid-Binding Globulin?

Lee JH et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin.

Meyer EJ et al.

Journal of the Endocrine Society, 2021

High frequency of SERPINA6 polymorphisms that reduce plasma corticosteroid-binding globulin activity in Chinese subjects.

Lin HY et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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