Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1L
Variant:p.Q1039R
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RPGRIP1L

NM_015272.5:p.Q1039R

Associated Papers

Genomic Analysis of Korean Patient With Microcephaly.

Lee J et al.

Frontiers in Genetics, 2020

33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3

Molecular genetic analysis of 30 families with Joubert syndrome.

Suzuki T et al.

Clinical Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."