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Antisense oligonucleotidesA primer
Daniel R. Scoles, Eric V. Minikel, Stefan M. Pulst

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Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
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Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
Jose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.

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Genomic variation in educational attainment modifies Alzheimer disease risk
Neha S. Raghavan, Badri Vardarajan, Richard Mayeux

February 11, 2019
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Double somatic mosaicism in a child with Dravet syndrome
Alison M. Muir, Chontelle King, Amy L. Schneider, et al.

April 19, 2019
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Brain-derived neurotrophic factor, epigenetics in stroke skeletal muscle, and exercise training
Alice S. Ryan, Huichun Xu, Frederick M. Ivey, et al.

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Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis
Yoshiaki Nishida, Masayuki Nakamura, Yuka Urata, et al.

May 01, 2019
Article
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
Anna Vihola, Johanna Palmio, Olof Danielsson, et al.

May 02, 2019
Clinical/Scientific Notes
A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
Jineesh Thottath, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, et al.

April 11, 2019

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