Varaico: Literature-Extracted Genetic Variants

Gene:GPRC5B
Variant:p.P157H
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GPRC5B

NM_016235.3:p.P157H

Associated Papers

Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.

Lanciotti A et al.

Neurobiology of Disease, 2026

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
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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."