Varaico: Literature-Extracted Genetic Variants

Gene:CNNM4
Variant:p.F93delFs
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CNNM4

NM_020184.4:p.F93delFs

Associated Papers

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

Lu J et al.

International Journal of Ophthalmology, 2025

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Prasov L et al.

American Journal of Medical Genetics. Part A, 2020

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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."