Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE2
Variant:p.R115Q
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MAPRE2

NM_001143827.3:p.R115Q

Associated Papers

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.

Berkun L et al.

American Journal of Medical Genetics. Part A, 2019

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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."