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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COX20

Variant:p.S53Splc

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COX20

NM_198076.6:p.S53Splc

hg38:chr1:244842065 A>G

Associated Papers

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Dong HL et al.

Brain : a Journal of Neurology, 2021

33751098 (PubMed )

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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."