Varaico: Literature-Extracted Genetic Variants

Gene:CA12
Variant:p.H121Q
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CA12

NM_001218.5:p.H121Q

Associated Papers

Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia.

Han M et al.

Frontiers in Pediatrics, 2022

Carbonic anhydrase XII functions in health and disease.

Waheed A et al.

Gene, 2017

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Lee M et al.

Human Molecular Genetics, 2016

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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."