# A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops

**Authors:** Wei Hou, Guifang Huang, Hongyu Wei, Wenwei Li, Houfeng Huang, Yuling Qiu, Hengying Zhu, Huifeng Han, Ping Chen, Xue Zhang

PMC · DOI: 10.1016/j.gendis.2024.101375 · Genes & Diseases · 2024-07-14

## Full-text entities

- **Genes:** RYR1 (ryanodine receptor 1) [NCBI Gene 6261] {aka CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS}
- **Diseases:** fetal hydrops (MESH:D015160)

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Source: https://tomesphere.com/paper/PMC11359738