Varaico: Literature-Extracted Genetic Variants

Gene:JAM3
Variant:p.C219Y
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JAM3

NM_032801.5:p.C219Y

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

Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene.

Xu M et al.

Frontiers in Genetics, 2022

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Akawi NA et al.

Human Mutation, 2013

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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."