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Reference Patent

Reference - List

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  • Search Condition : Filter (MeSH = Abnormalities, Multiple / pathology)
Species Resource RRC ID Title Journal Published Link
Clawed frogs / Newts Xenopus genomic database , Technical assistance 81669 Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB. Hum Mol Genet 2024-11-8 Pubmed Full text
Drosophila 31935R-3 60813 The Warburg Micro Syndrome-associated Rab3GAP-Rab18 module promotes autolysosome maturation through the Vps34 Complex I. FEBS J 2021-1-1 Pubmed Full text
C.elegans tm1830 , tm324 , tm925 , tm2322 , tm3100 53444 KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol 2015-12-29 Pubmed Full text
Rats IS/Kyo(strainID=5) , IS-Tlk/Kyo(strainID=25) 33274 Morphological features of adult rats of IS/Kyo and IS-Tlk/Kyo strains with lumbar and caudal vertebral anomalies. Exp Anim 2014-1-1 Pubmed Full text
Mice RBRC00387 11789 Birth defects caused by mutations in human GLI3 and mouse Gli3 genes. Congenit Anom (Kyoto) 2010-3-1 Pubmed Full text
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