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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPEPPS

Variant:p.K580R

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NPEPPS

NM_006310.4:p.K580R

hg38:chr17:47601746 A>G

Associated Papers

Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome.

Katsumata N et al.

Endocrine Journal, 2008

18270433 (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."