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Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients.
Ann Hum Genet. 2018 Nov;82(6):425-436. doi: 10.1111/ahg.12272. Epub 2018 Jul 16.
Ann Hum Genet. 2018.
PMID: 30014477
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.
Savige J, et al. Among authors: torres fernandez c.
PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.
PLoS One. 2016.
PMID: 27627812
Free PMC article.
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