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Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions
RP1 truncation variants, including frameshift, nonsense, and splicing, are a common cause of retinitis pigmentosa (RP). RP1 is a unique gene where truncations cause either autosomal dominant RP (adRP) or autosomal recessive RP (arRP) depending on the location of the variants. This study aims to clar...
Shranjeno v:
| izdano v: | Front Cell Dev Biol |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2021
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7935555/ https://ncbi.nlm.nih.gov/pubmed/33681214 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.634478 |
| Oznake: |
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