Condition: Meretoja syndrome
rs121909715
in
GSN
gene and
Meretoja syndrome
PMID 1338910
1992 Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.
PMID 2176481
1990 Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.