cobblestone

collagen type III alpha 1 chain ; Homo sapiens







2 Article(s)
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1 28258187 Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. 2017 Jun 1
2 28742248 Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. 2017 Sep 1