Associated Papers
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Duque-Cordoba PA et al.
Medicine, 2023
38013309 (PubMed )
Supplement: medi-102-e35600-s001.pdf
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
36938085 (PubMed )
Supplement: mmc2.xlsx › Liste_VUS
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia.
Lee SJ et al.
Journal of Clinical Neurology (seoul, Korea), 2019
31286721 (PubMed )
Supplement: jcn-15-418-s002.pdf
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M et al.
Nature Genetics, 2007
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