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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSPN

Variant:p.A133P

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PSPN

NM_004158.5:p.A133P

hg38:chr19:6375368 C>G

Associated Papers

NRG1 variant effects in patients with Hirschsprung disease.

Gunadi et al.

Bmc Pediatrics, 2018

30180823 (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."