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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Download from doi.orgCross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants
UploadChildhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Download from www.nature.comPathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
Download from doi.orgGenetic regulatory variation in populations informs transcriptome analysis in rare disease
UploadAn ultrafast system for signaling mechanical pain in human skin
Download from doi.orgPIEZO2 mediates injury-induced tactile pain in mice and humans
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