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PubMed (OMIM) for id: 23352

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Genetic Variants Associated with Episodic Ataxia in Korea.
Choi KD, Kim JS, Kim HJ, Jung I, Jeong SH, Lee SH, Kim DU, Kim SH, Choi SY, Shin JH, Kim DS, Park KP, Kim HS, Choi JH. Choi KD, et al. Sci Rep. 2017 Oct 23;7(1):13855. doi: 10.1038/s41598-017-14254-7. Sci Rep. 2017. PMID: 29062094 Free PMC article.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah … See abstract for full author list ➔ Monies D, et al. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
A novel locus for episodic ataxia:UBR4 the likely candidate.
Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S. Conroy J, et al. Eur J Hum Genet. 2014 Apr;22(4):505-10. doi: 10.1038/ejhg.2013.173. Epub 2013 Aug 28. Eur J Hum Genet. 2014. PMID: 23982692 Free PMC article.
p600, a unique protein required for membrane morphogenesis and cell survival.
Nakatani Y, Konishi H, Vassilev A, Kurooka H, Ishiguro K, Sawada J, Ikura T, Korsmeyer SJ, Qin J, Herlitz AM. Nakatani Y, et al. Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15093-8. doi: 10.1073/pnas.0507458102. Epub 2005 Oct 7. Proc Natl Acad Sci U S A. 2005. PMID: 16214886 Free PMC article.