Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1L
Variant:p.N241_E242delFs
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RPGRIP1L

NM_015272.5:p.N241_E242delFs

Associated Papers

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

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.

Szymanska K et al.

Cilia, 2012

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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."