Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.I132_K133del1
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GJA1

NM_000165.5:p.I132_K133del1

Associated Papers

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

Di Bella D et al.

European Journal of Neurology, 2021

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
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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."