Varaico: Literature-Extracted Genetic Variants

Gene:C1QTNF1
Variant:p.D103N
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C1QTNF1

NM_030968.5:p.D103N

Associated Papers

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

Molecular identification of the human melanocortin-2 receptor responsible for ligand binding and signaling.

Chen M et al.

Biochemistry, 2007

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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."