Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.P187S
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GJA8

NM_005267.5:p.P187S

Associated Papers

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.

Ding X et al.

Plos One, 2014

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

Wang KJ et al.

Molecular Vision, 2011

A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.

Ding X et al.

Molecular Vision, 2011

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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."