Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.D357N
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SPAG17

NM_206996.4:p.D357N

Associated Papers

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.

Córdova-Fletes C et al.

European Journal of Medical Genetics, 2018

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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."