Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA12
Variant:p.R211*
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SERPINA12

NM_001382267.1:p.R211*

Associated Papers

The roles of serine protease inhibitors in dermatoses.

Xiao Z et al.

Frontiers in Genetics, 2025

Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis.

Liu Y et al.

The British Journal of Dermatology, 2024

A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.

Bianchi A et al.

Nar Genomics and Bioinformatics, 2024

38633426 (PubMed )
Supplement: lqae033_supplemental_files.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

Brandt E et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Park JH et al.

Translational Oncology, 2018

29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-13.xlsx › S_Data_12

Analysis of a rare functional truncating mutation rs61757459 in vaspin (SERPINA12) on circulating vaspin levels.

Breitfeld J et al.

Journal of Molecular Medicine (berlin, Germany), 2013

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