Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.R533_K534delFs
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RP1

NM_006269.2:p.R533_K534delFs

Associated Papers

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.

Wang J et al.

Frontiers in Cell and Developmental Biology, 2021

33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.

Huckfeldt RM et al.

Molecular Vision, 2020

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
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