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PubMed (cited) for id: 617728
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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
EBioMedicine. 2024 Jan;99:104940. doi: 10.1016/j.ebiom.2023.104940. Epub 2023 Dec 27.
EBioMedicine. 2024.
PMID: 38154379
Free PMC article.
The morbid genome of ciliopathies: an update.
Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Alghamdi JM, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Seidahmed MZ, Alkuraya FS.
Shamseldin HE, et al.
Genet Med. 2020 Jun;22(6):1051-1060. doi: 10.1038/s41436-020-0761-1. Epub 2020 Feb 14.
Genet Med. 2020.
PMID: 32055034
Free article.
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CEP295 interacts with microtubules and is required for centriole elongation.
Chang CW, Hsu WB, Tsai JJ, Tang CJ, Tang TK.
Chang CW, et al.
J Cell Sci. 2016 Jul 1;129(13):2501-13. doi: 10.1242/jcs.186338. Epub 2016 May 16.
J Cell Sci. 2016.
PMID: 27185865
Free PMC article.
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Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.
Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T.
Knorz VJ, et al.
Mol Biol Cell. 2010 Nov 1;21(21):3617-29. doi: 10.1091/mbc.E10-03-0246. Epub 2010 Sep 15.
Mol Biol Cell. 2010.
PMID: 20844083
Free PMC article.
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Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O.
Nagase T, et al.
DNA Res. 2000 Dec 31;7(6):347-55. doi: 10.1093/dnares/7.6.347.
DNA Res. 2000.
PMID: 11214970
Free article.
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