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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKN

Variant:p.N232_T237ins2

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PRKN

NM_004562.3:p.N232_T237ins2

hg38:chr6:161973324 A>AAGTGATGTTCCGACTATT

Associated Papers

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Lenglet M et al.

Blood, 2018

29891534 (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."