Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1L
Variant:p.E451fs
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RPGRIP1L

NM_015272.5:p.E451fs

Associated Papers

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay.

Xu H et al.

Frontiers in Genetics, 2024

Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.

Zhang P et al.

Reproductive Sciences (thousand Oaks, Calif.), 2022

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