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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNNM4

Variant:p.T302_I303delFs

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CNNM4

NM_020184.4:p.T302_I303delFs

hg38:chr2:96761904 CCA>C

Associated Papers

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Wang H et al.

Investigative Ophthalmology & Visual Science, 2015

26047050 (PubMed )

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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."