Varaico: Literature-Extracted Genetic Variants

Gene:C2CD3
Variant:p.W66*
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C2CD3

NM_001286577.2:p.W66*

Associated Papers

Phenotypic expansion illuminates multilocus pathogenic variation.

Karaca E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29790871 (PubMed )
Supplement: NIHMS940738-supplement-Table_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."