Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.L268L
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GJA8

NM_005267.5:p.L268L

Associated Papers

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.

Li S et al.

Bmc Medical Genetics, 2019

31842807 (PubMed )
Supplement: 12881_2019_933_MOESM2_ESM.xlsx › ___1

A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.

Chen C et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015

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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."