Varaico: Literature-Extracted Genetic Variants

Gene:CCDC28B
Variant:p.M1_D2del2
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CCDC28B

NM_024296.5:p.M1_D2del2

Associated Papers

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Bergmann C et al.

American Journal of Human Genetics, 2008

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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."