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Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24333
Abstract: A proper interaction between muscle‐derived collagen XXV and its motor neuron‐derived receptors protein tyrosine phosphatases σ and δ (PTP σ/δ) is indispensable for intramuscular motor innervation. Despite this, thus far, pathogenic recessive variants in the…
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Keywords:
congenital cranial;
recessive variants;
cranial dysinnervation;
ocular congenital ... See more keywords