Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.I31F
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GJA1

NM_000165.5:p.I31F

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

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

Wang Z et al.

Ophthalmic Genetics, 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."