Varaico: Literature-Extracted Genetic Variants

Gene:PITPNM3
Variant:p.E89K
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PITPNM3

NM_031220.4:p.E89K

Associated Papers

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

Kamenarova K et al.

Biomed Research International, 2013

Genes and mutations in autosomal dominant cone and cone-rod dystrophy.

Kohl S et al.

Advances in Experimental Medicine and Biology, 2012

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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."