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Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

The table below lists some of the mutations found in the human craniofacial condition Beare-Stevenson Cutis Gyrata Syndrome. The table gives information on the mutant gene, nucleotide change, amino acid change, type of mutation, and published reference. For more details on each mutation click on "view".

Beare-Stevenson Cutis Gyrata Syndrome Mutations and Variations

Gene Nucleotide
Change
Amino Acid
Change
Type Further Details Reference
FGFR2 1115C>G S372C  Missence  view Przylepa, 1996
FGFR2 1124A>G Y375C  Missense  view Przylepa, 1996
FGFR2 1124A>G Y375C  Missense  view Przylepa, 1996

Last Updated: 11/24/03

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