GPATCH8

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Template:Short description An Error has occurred retrieving Wikidata item for infobox G patch domain-containing protein 8 is a protein that in humans is encoded by the GPATCH8 gene.[1][2]

Hyperuricemia

Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing[3]

References

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  1. ^ Page Module:Citation/CS1/styles.css has no content.Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
  2. ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: GPATCH8 G patch domain containing 8".
  3. ^ Page Module:Citation/CS1/styles.css has no content.Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K (Nov 2011). "Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8". Hum. Genet. 130 (5): 671–83. doi:10.1007/s00439-011-1006-9. PMID 21594610. S2CID 1075364.

Further reading

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