Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88A
Variant:p.K647T
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CCDC88A

NM_001365480.1:p.K647T

Associated Papers

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

Elizondo LI et al.

Journal of Medical Genetics, 2009

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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."