Harvard Catalyst Profiles

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Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet. 2013 Jul 02; 14:68.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.