Varaico: Literature-Extracted Genetic Variants

Gene:JAM3
Variant:p.Y238Splc
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JAM3

NM_032801.5:p.Y238Splc

Associated Papers

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

Kozak I et al.

Eye and Brain, 2024

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

Xu M et al.

Frontiers in Genetics, 2022

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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."