Varaico: Literature-Extracted Genetic Variants

Gene:JAM3
Variant:p.V249insFs
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JAM3

NM_032801.5:p.V249insFs

Associated Papers

Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC).

Kozak I et al.

Eye and Brain, 2024

Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease.

Abdallah Moady T et al.

Frontiers in Pediatrics, 2023

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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."