Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.K291_M293del0
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OFD1

NM_003611.3:p.K291_M293del0

Associated Papers

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Linpeng S et al.

Biomed Research International, 2018

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY et al.

European Journal of Human Genetics : Ejhg, 2016

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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."