Varaico: Literature-Extracted Genetic Variants

Gene:RAB28
Variant:p.K25_T26Splc
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RAB28

NM_001017979.3:p.K25_T26Splc

Associated Papers

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Sakaguchi N et al.

Npj Genomic Medicine, 2022

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S3_America

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.

Iarossi G et al.

International Journal of Molecular Sciences, 2020

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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."