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Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.
Clin Genet. 2018 Nov;94(5):409-418. doi: 10.1111/cge.13418. Epub 2018 Aug 9.
Clin Genet. 2018.
PMID: 30028003
Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.
Nettuwakul C, Praditsap O, Sawasdee N, Rungroj N, Ruamyod K, Watanapa WB, Junking M, Sangnual S, Sritippayawan S, Cheunsuchon B, Chuawattana D, Rojsatapong S, Chaowagul W, Dib-Hajj SD, Waxman SG, Yenchitsomanus PT.
Nettuwakul C, et al. Among authors: sangnual s.
Sci Rep. 2018 Jul 11;8(1):10453. doi: 10.1038/s41598-018-28623-3.
Sci Rep. 2018.
PMID: 29992996
Free PMC article.
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