Associated Papers
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).
Bellardita M et al.
Molecular Genetics & Genomic Medicine, 2025
40772608 (PubMed )
Supplement: MGG3-13-e70126-s003.xlsx › Foglio1
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Delle Vedove A et al.
American Journal of Human Genetics, 2016
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