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Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Orphanet journal of rare diseases. 2020-02; 
Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A
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