Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.K675fs
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RP1

NM_006269.2:p.K675fs

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

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

El Shamieh S et al.

Biomed Research International, 2015

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