Associated Papers
Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.
He J et al.
Frontiers in Genetics, 2022
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C et al.
Human Mutation, 2020
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