Varaico: Literature-Extracted Genetic Variants

Gene:CHP1
Variant:p.R91C
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CHP1

NM_007236.5:p.R91C

Associated Papers

Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings.

Saito R et al.

Acta Neuropathologica Communications, 2020

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2018

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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."