Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA12
Variant:p.R213R
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SERPINA12

NM_001382267.1:p.R213R

Associated Papers

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

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
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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."