Varaico: Literature-Extracted Genetic Variants

Gene:HEPACAM
Variant:p.Q56*
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HEPACAM

NM_152722.5:p.Q56*

Associated Papers

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.

Kaur N et al.

Neurogenetics, 2024

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

Passchier EMJ et al.

Frontiers in Genetics, 2024

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.

Arnedo T et al.

Neurogenetics, 2014

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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."