Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A138Splc
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PRKN

NM_004562.3:p.A138Splc

Associated Papers

Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma.

Cain JW et al.

Expert Review of Endocrinology & Metabolism, 2010

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Harville HM et al.

Journal of Medical Genetics, 2010

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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."