Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.A5V
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ABCB7

NM_001271696.3:p.A5V

Associated Papers

A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine.

Algahtani H et al.

Intractable & Rare Diseases Research, 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."