Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q389_A390Splc
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PRKN

NM_004562.3:p.Q389_A390Splc

Associated Papers

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

Pryor SP et al.

Journal of Medical Genetics, 2005

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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."