Varaico: Literature-Extracted Genetic Variants

Gene:TTPA
Variant:p.R221_I222Splc
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TTPA

NM_000370.3:p.R221_I222Splc

Associated Papers

Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia.

Guo L et al.

Frontiers in Neurology, 2025

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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."