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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPPC

Variant:p.Q50*

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NPPC

NM_024409.4:p.Q50*

hg38:chr2:231925658 G>A

Associated Papers

New gene discoveries in skeletal diseases with short stature.

Costantini A et al.

Endocrine Connections, 2021

33830070 (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."