. . . . . . . "[A truncating mutation in the C-terminal region of alphaB-crystallin was determined in 2 patients with adult-onset myofibrillar myopathy; the region is crucial for the solubilization and chaperone functions of the molecule.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:45+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .