Varaico: Literature-Extracted Genetic Variants

Gene:CA5A
Variant:p.N46K
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CA5A

NM_001739.2:p.N46K

Associated Papers

Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.

Aspatwar A et al.

The Journal of Physiology, 2023

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Diez-Fernandez C et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."