Varaico: Literature-Extracted Genetic Variants

Gene:MUC12
Variant:p.I4448L
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MUC12

NM_001164462.2:p.I4448L

Associated Papers

Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease.

Wu W et al.

Frontiers in Genetics, 2018

30693022 (PubMed )
Supplement: Table_1.xlsx › 19.dominant.variant
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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."