Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution

Table 7 PubMed searches

First Search Term	Second search term	No. entries produced	Reference
Mutation 1
'PAH G148S'		0
PAH G148S		0
PAH		8420
PAH	G148S	0
PAH	Gly148Ser^a	0
Mutation 2
MLH1		2353
MLH1	Q62K	0
MLH1	Gln62Lys^a	0
Mutation 3
MLH1	K618A	5	[12–16]
MLH1	Lys618Ala^a	1	[17]
Mutation 4
BRCA2		3906
BRCA2	D2723H	1	[9]
BRCA2	Asp2723His^a	1	[18]
Mutation 5
BRCA1		6317
BRCA1	V772A	0
BRCA1	Val772Ala^a	0

ISSN: 1479-7364