Somatic variants in HHT second hit study
收藏Figshare2025-06-07 更新2026-04-08 收录
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https://figshare.com/articles/dataset/Somatic_variants_in_HHT_second_hit_study/29262878/1
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资源简介：
Hereditary Haemorrhagic Telangiectasia (HHT) is a vascular disorder linked to germline mutations. We performed deep sequencing on multiple lesions from one HHT patient with an ACVRL1 deletion and identified three somatic variants in five samples. Findings support a second-hit mechanism driving lesion formation in HHT.
提供机构：
Hao, Qin
创建时间：
2025-06-07
