Varaico: Literature-Extracted Genetic Variants

Gene:ARL13A
Variant:p.E56K
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ARL13A

NM_001162491.2:p.E56K

Associated Papers

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

Haskell GT et al.

The Journal of Heart Valve Disease, 2017

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

Philips AK et al.

Orphanet Journal of Rare Diseases, 2014

24721225 (PubMed )
Supplement: 1750-1172-9-49-S1.xls › Sheet1
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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."