Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.E357K
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ATXN1

NM_001128164.2:p.E357K

Associated Papers

Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.

Wang M et al.

Bmc Ophthalmology, 2016

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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."