PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 28742248-8 2017 In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. cobblestone 136-147 collagen type III alpha 1 chain Homo sapiens 118-124 28258187-10 2017 CONCLUSION: Homozygous or compound heterozygous mutations in COL3A1 are associated with cobblestone-like malformation in all three families reported to date. cobblestone 88-99 collagen type III alpha 1 chain Homo sapiens 61-67