Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG4
Variant:p.N7S
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PLEKHG4

NM_001129729.3:p.N7S

Associated Papers

Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.

Wieczorek S et al.

Journal of Human Genetics, 2006

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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."