RGD Annotation Report for Flexion contractureRat Genome Database

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An association has been curated linking FKRP and Flexion contracture in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
7 additional annotations were made from Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
1082 RGD objects have been annotated to Flexion contracture (HP:0001371)
20 papers in RGD have been used to annotate FKRP
Curation Notes: DNA:missense mutation: :p.A455D(human)

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.