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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPTX2

Variant:p.L43V

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NPTX2

NM_002523.3:p.L43V

hg38:chr7:98617588 C>G

Associated Papers

Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus.

Tian D et al.

International Journal of Molecular Medicine, 2016

27513365 (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."