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Literature summary for 2.7.10.1 extracted from

  • Steinberger, D.; Collmann, H.; Schmalenberger, B.; Muller, U.
    A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly (1997), J. Med. Genet., 34, 420-422.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
additional information A to G transition is found at position 886 in exon 5 of the fibroblast growth factor receptor 2 in members of a family with Crouzon phenotype and plagiocephaly Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P21802
-
-

Synonyms

Synonyms Comment Organism
fibroblast growth factor receptor 2
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Homo sapiens