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Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient

Retinitis pigmentosa (RP) is a rare and heterogeneous group of inherited ocular diseases. However, the relationship between CACNA2D4 mutations and RP is not well understood. In this study, a Chinese autosomal recessive retinitis pigmentosa (arRP) pedigree was enrolled and targeted next-generation se...

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Dettagli Bibliografici
Pubblicato in:3 Biotech
Autori principali: Cheng, Jingliang, Zhou, Qi, Fu, Jiewen, Wei, Chunli, Zhang, Lianmei, Khan, Md Shamsuddin Sultan, Lv, Hongbin, Anuchapreeda, Songyot, Fu, Junjiang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8036171/
https://ncbi.nlm.nih.gov/pubmed/33927996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13205-021-02761-4
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