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Year | Number of Results |
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1998 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 23247
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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Hum Genet. 2016 Aug;135(8):919-921. doi: 10.1007/s00439-016-1689-z. Epub 2016 May 31.
Hum Genet. 2016.
PMID: 27245168
Free PMC article.
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE.
Sanders AA, et al.
Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z.
Genome Biol. 2015.
PMID: 26714646
Free PMC article.
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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.
Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
Nagase T, et al.
DNA Res. 1998 Feb 28;5(1):31-9. doi: 10.1093/dnares/5.1.31.
DNA Res. 1998.
PMID: 9628581
Free article.
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