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CrossRef Text and Data Mining |
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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 |
A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome A new allelic variant of rigid spine syndrome A new allelic variation within the 5′-flanking region of the interleukin-10 gene A new allelic variant in the bovine prion protein gene (PRNP) coding region A case of Robinow–Sorauf syndrome (craniosynostosis-bifid hallux syndrome): The allelic variant of the Saethre–Chotzen syndrome Characterization of the human PANK2 promoter Bi-allelic variant c.8638_8658dup in HYDIN causes bronchiectasis in two siblings 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 Familial aggregation of aspirin-induced urticaria and leukotriene C4
synthase allelic variant 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 |
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