PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 24379646-4 2013 Direct sequencing revealed a heterozygous G>A transversion at c.1042 of the coding sequence in exon 7 of BFSP1 (c.1042G>A) in all affected members, which resulted in the substitution of a wild-type aspartate to an asparagine (D348N). Aspartic Acid 204-213 beaded filament structural protein 1 Homo sapiens 108-113 24379646-6 2013 CONCLUSIONS: A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family. Aspartic Acid 100-109 beaded filament structural protein 1 Homo sapiens 58-63