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A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome
Myriam Ley Martos, María Jesús Salado Reyes, Rosario Marín Iglesias, Carmen Gutiérrez Moro, Manuel Lubián Gutiérrez, Lorena Estepa Pedregosa
JMD. 2020;13(3):229-231.   Published online 2020 July 14    DOI: https://doi.org/10.14802/jmd.19071

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A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome
Journal of Movement Disorders. 2020;13(3):229-231   Crossref logo
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A new allelic variant of rigid spine syndrome
Human Physiology. 2016;42(8):850-853   Crossref logo
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A new allelic variation within the 5′-flanking region of the interleukin-10 gene
European Journal of Immunogenetics. 2003;30(3):191-193   Crossref logo
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A new allelic variant in the bovine prion protein gene (PRNP) coding region
Animal Genetics. 1999;30(5):386-387   Crossref logo
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A case of Robinow–Sorauf syndrome (craniosynostosis-bifid hallux syndrome): The allelic variant of the Saethre–Chotzen syndrome
Indian Journal of Dentistry. 2014;5:107-111   Crossref logo
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Characterization of the human PANK2 promoter
Gene. 2010;465(1-2):53-60   Crossref logo
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Bi-allelic variant c.8638_8658dup in HYDIN causes bronchiectasis in two siblings
Gene Reports. 2020;21:100961   Crossref logo
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Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene
Acta Neurochirurgica. 2015;157(9):1513-1517   Crossref logo
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Familial aggregation of aspirin-induced urticaria and leukotriene C4 synthase allelic variant
British Journal of Dermatology. 2005;154(2):256-260   Crossref logo
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The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype
Gene. 2013;526(2):471-473   Crossref logo
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