Varaico: Literature-Extracted Genetic Variants

Gene:CLEC12B
Variant:p.E105K
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CLEC12B

NM_001129998.3:p.E105K

Associated Papers

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

Urreizti R et al.

Scientific Reports, 2017

28281571 (PubMed )
Supplement: srep44138-s1.pdf
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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."