Associated Papers
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
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Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
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Human Molecular Genetics, 2018
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