Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy - Archive ouverte HAL
Communication Dans Un Congrès Année : 2020

Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

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hal-04004866 , version 1 (25-02-2023)

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  • HAL Id : hal-04004866 , version 1

Citer

E Cohen, I Nelson, C Gartioux, M Beuvin, Z Mezdari, et al.. Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy. New Directions in Skeletal Muscle Biology, Jun 2020, Virtual conference (Covid), United States. ⟨hal-04004866⟩
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