. . . . . . . . . . . . "[In this work, we report two novel homozygous mutations c.8005delT and c.8244+1G>A in the LAMA2 gene in four Tunisian patients with a severe MDC1A phenotype belonging to two unrelated consanguineous families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:34:26+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .