Varaico: Literature-Extracted Genetic Variants

Gene:WDR47
Variant:p.E418_L419Splc
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WDR47

NM_001142551.2:p.E418_L419Splc

Associated Papers

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L et al.

Plos Genetics, 2018

30157172 (PubMed )
Supplement: pgen.1007504.s006.xlsx › S4_Table
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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."