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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking POMT1 and cleft lip in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Vajsar J, etal., Neuromuscul Disord. 2008 Aug;18(8):675-7. doi: 10.1016/j.nmd.2008.05.014. Epub 2008 Jul 18.
  • 2 additional annotations were made from Vajsar J, etal., Neuromuscul Disord. 2008 Aug;18(8):675-7. doi: 10.1016/j.nmd.2008.05.014. Epub 2008 Jul 18.
  • 74 RGD objects have been annotated to cleft lip  (DOID:9296)
  • 12 papers in RGD have been used to annotate POMT1
  • Curation Notes: associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon


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