Varaico: Literature-Extracted Genetic Variants

Gene:CA2
Variant:p.S48fs
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CA2

NM_000067.3:p.S48fs

Associated Papers

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency.

Satapathy AK et al.

Journal of Pediatric Genetics, 2019

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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."