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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.
J Am Soc Nephrol. 2015.
PMID: 25349199
Free PMC article.
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Doherty D, Hildebrandt F.
Schueler M, et al.
J Med Genet. 2016 Mar;53(3):208-14. doi: 10.1136/jmedgenet-2015-103304. Epub 2015 Dec 16.
J Med Genet. 2016.
PMID: 26673778
Free PMC article.
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