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publicationName Clinical Genetics
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bibliographicCitation Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug;74(2):164–70. PMID: 18565097; PMCID: PMC2752690.
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date 2008-07-09-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://doi.org/10.1111/j.1399-0004.2008.01047.x
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title RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders
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