Matches in Nanopublications for { ?s ?p "[We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_assertion description "[We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP573461.RATkioDPoahUj9yrNLcEdUJlz3cWsq-P-q6VDvyHtnFaE130_provenance.
- assertion description "[We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP1023322.RAQVZwnfpgguG--krjeIHbusECCVJkq6It0ZIgzFWfmr4130_assertion description "[We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1023322.RAQVZwnfpgguG--krjeIHbusECCVJkq6It0ZIgzFWfmr4130_provenance.
- NP357087.RAMumwWeyslVgz3Kn7w-aXRJSRyyLYZ7wC_Sz5sm1xPpE130_assertion description "[We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357087.RAMumwWeyslVgz3Kn7w-aXRJSRyyLYZ7wC_Sz5sm1xPpE130_provenance.