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WGS congenital cataract in Red Holstein cattle

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https://www.ncbi.nlm.nih.gov/sra/ERP022710
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资源简介:
To investigate the genetic basis of bilateral congenital cataract in Red Holstein Friesian cattle whole genome re-sequencing of one case and four relatives was conducted. a nonsense mutation (g.5995966C>T) in the PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8) gene leading to a premature stop codon (CPAMD8 p.Q74*) associated with cataract development in cattle was detected.
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2021-02-04
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