遇见数据集

Comparison of this study with previous NGS studies on retinal dystrophies.

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Figshare2015-12-02 更新2026-04-29 收录
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*Positive controls not included.**Additional samples from the same families not included. Gene numbers in brackets include additionally screened candidate genes that are not yet proven retinal disease genes. BBS, Bardet-Biedl syndrome; CRD, cone-rod dystrophy; CD, cone dystrophy; CSNB, congenital stationary night blindness; FA, fundus albipunctatus; STGD, Morbus Stargardt; USH, Usher syndrome.

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2015-12-02
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