Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.G45_T46insFs
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HEPACAM

NM_152722.5:p.G45_T46insFs

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Passchier EMJ et al.

Frontiers in Genetics, 2024

38487253 (PubMed )
Supplement: Table1.pdf

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis.

van der Knaap MS et al.

The Lancet. Neurology, 2012

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