Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.R142_P143delins
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PEX6

NM_000287.4:p.R142_P143delins

Associated Papers

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

García-García G et al.

Molecular Vision, 2020

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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."