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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EDNRB

Variant:p.I243I

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EDNRB

NM_001122659.3:p.I243I

hg38:chr13:77903228 A>T

Associated Papers

Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.

Hyndman BD et al.

Human Mutation, 2013

22837065 (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."