Varaico: Literature-Extracted Genetic Variants

Gene:GPR180
Variant:p.Q115*
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GPR180

NM_180989.6:p.Q115*

Associated Papers

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.

Pozza E et al.

European Journal of Medical Genetics, 2020

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Fares-Taie L et al.

American Journal of Human Genetics, 2015

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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."