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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AHNAK

Variant:p.K2180R

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AHNAK

NM_001620.3:p.K2180R

hg38:chr11:62527878 T>C

Associated Papers

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.

Luzón-Toro B et al.

Scientific Reports, 2015

26559152 (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."