Varaico: Literature-Extracted Genetic Variants

Gene:SPESP1
Variant:p.I124V
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SPESP1

NM_145658.4:p.I124V

Associated Papers

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ et al.

Bmc Genetics, 2014

24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx

Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.

Kondo H et al.

Molecular Vision, 2013

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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."