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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资源简介：
Genetic data in VCF format and Sanger electropherograms of an Italian patient with spastic ataxia phenotype
一名表现出痉挛性共济失调表型的意大利患者的VCF（Variant Call Format）格式遗传数据及桑格电泳谱图
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Zenodo创建时间：
2021-12-20
