Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0586
Variant:p.V249fs
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KIAA0586

NM_001244189.2:p.V249fs

Associated Papers

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.

Sumathipala D et al.

Bmc Medical Genetics, 2020

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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."