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PubMed (OMIM) for id: 51594

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Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. Haack TB, et al. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073778 Free PMC article.
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.
Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O. Maksimova N, et al. J Med Genet. 2010 Aug;47(8):538-48. doi: 10.1136/jmg.2009.074815. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577004 Free PMC article.
[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)].
Tarskaia LA, Zinchenko RA, El'chinova GI, Egorova AG, Korotov MN, Basova EV, Prokop'eva AM, Sivtseva EN, Nikolaeva EE, Banshchinkova ES, Samarkina MV, Danilova GI, Zhelobtsova AF, Danilova AP, Popova GN. Tarskaia LA, et al. Genetika. 2004 Nov;40(11):1530-9. Genetika. 2004. PMID: 15612572 Russian.
[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)].
Tarskaia LA, Zinchenko RA, El'chiniova GI, Egorova AG, Korotov MN, Basova EV, Prokop'eva AM, Sivtseva EN, Nikolaeva EE, Banshchikova ES, Samarkina MV, Sannikova AN, Danilova GI, Zhelobtsova AF, Danilova AP, Popova GN. Tarskaia LA, et al. Genetika. 2003 Dec;39(12):1719-22. Genetika. 2003. PMID: 14964842 Russian.