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- assertion description "[The aim of this study was to identify a GNAS mutation in a patient with a severe form of AHO and pseudohypoparathyroidism type 1a with phocomelia and to perform PGD on embryos derived by in vitro fertilization to deliver an unaffected infant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
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- assertion SIO_000772 18089698 provenance.
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- assertion wasGeneratedBy ECO_0000203 provenance.