Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1L
Variant:p.Q1144_P1145Splc
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RPGRIP1L

NM_015272.5:p.Q1144_P1145Splc

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

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

Wolf MT et al.

Kidney International, 2007

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