Varaico: Literature-Extracted Genetic Variants

Gene:CAPN6
Variant:p.K250N
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CAPN6

NM_014289.4:p.K250N

Associated Papers

Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.

Geddes JW et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

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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."