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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CNNM4

Variant:p.L115P

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CNNM4

NM_020184.4:p.L115P

hg38:chr2:96761343 T>C

Associated Papers

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report.

Lee JH et al.

Korean Journal of Ophthalmology : Kjo, 2023

36950920 (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."