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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PANK2

Variant:p.L494W

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PANK2

NM_153638.4:p.L494W

hg38:chr20:3916995 T>G

Associated Papers

Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.

Akcakaya NH et al.

Clinical Neurology and Neurosurgery, 2017

28113101 (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."