Varaico: Literature-Extracted Genetic Variants

Gene:CA2
Variant:p.S29C
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CA2

NM_000067.3:p.S29C

Associated Papers

Unfolding a folding disease: folding, misfolding and aggregation of the marble brain syndrome-associated mutant H107Y of human carbonic anhydrase II.

Almstedt K et al.

Journal of Molecular Biology, 2004

Role of an evolutionarily invariant serine for the stability of human carbonic anhydrase II.

Mårtensson LG et al.

Biochimica Et Biophysica Acta, 1992

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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."