Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.W25C
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GJA1

NM_000165.5:p.W25C

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

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits.

Furuta N et al.

Internal Medicine (tokyo, Japan), 2012

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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."