Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.D47H
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GJA1

NM_000165.5:p.D47H

Associated Papers

Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Kumar V et al.

Case Reports in Ophthalmological Medicine, 2020

32318302 (PubMed )
Supplement: 6535974.f1.xlsx › Sheet1

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Yu Y et al.

Scientific Reports, 2016

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Jamsheer A et al.

Gene, 2014

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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."