Dataset related to article "Multifaceted and age-dependent phenotypes associated with biallelic PNPLA6 gene variants: eight novel cases and review of the literature."
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下载链接：
https://zenodo.org/record/5793957
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资源简介：
Genetic data in VCF format and Sanger electropherograms of an Italian patient with spastic ataxia phenotype
创建时间：
2022-01-18
