RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
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| Description | scientific article published on 28 June 2008 |
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author: Bruno Dallapiccola Alain Verloes Lorena Travaglini Enza Maria Valente Enrico Bertini |
| Publication date | June 28, 2008 |
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