89411bca-4c4b-4c51-b13f-49f9aa8ef399 - samples
收藏NIAID Data Ecosystem2026-03-12 收录
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https://www.omicsdi.org/dataset/ega/EGAD00001006561
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资源简介：
We performed whole- genome sequencing, rare variant filtering, segregation analysis and functional validation of PD cosegregating rare genetic variation in two families (6 samples) segregating PD associated GBA variants c.115+1G>A (ClinVar ID: 93445, ) and p.L444P (ClinVar ID: 4288) respectively. The paired WGS sequencing was run on HiSeq X Ten and the library preparation kit was Illumina TruSeq DNA nano.EGA dataset EGAD00001006561
创建时间：
2020-11-27
