Varaico: Literature-Extracted Genetic Variants

Gene:CA4
Variant:p.P301L
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CA4

NM_000717.5:p.P301L

Associated Papers

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

van Swieten JC et al.

Annals of Neurology, 1999

Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau.

Spillantini MG et al.

The American Journal of Pathology, 1998

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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."