Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }

• NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP494480.RAUJSDfbXnOqhnGEAwhMa-_9zUzB1WUl8_KUanrfO4Aaw130_provenance.
• NP316671.RAwsSqD4AaqSfMGqTj7Mz5TVfsxmhKhF3Ze8fyQgWTspY130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP316671.RAwsSqD4AaqSfMGqTj7Mz5TVfsxmhKhF3Ze8fyQgWTspY130_provenance.
• NP632325.RAfug4AxdNrzHcaMspZwQUuqr_dAq3HeDAgjGERIfyd-w130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP632325.RAfug4AxdNrzHcaMspZwQUuqr_dAq3HeDAgjGERIfyd-w130_provenance.
• assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662299.RAC_GuABLRL5ngXjqC32LIn2cBmeRgPeYFDZCjXR-E-Pg130_provenance.
• NP632602.RAkWrcdebHHk203jE-RImHW1Wfny-LiqFPv9NHyhMJQ_8130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP632602.RAkWrcdebHHk203jE-RImHW1Wfny-LiqFPv9NHyhMJQ_8130_provenance.
• NP1043027.RAh7TRyEeQjVLxHhx1jkrnHVJgnP-bFK313VSxvodcufs130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1043027.RAh7TRyEeQjVLxHhx1jkrnHVJgnP-bFK313VSxvodcufs130_provenance.
• NP1043028.RAl6RqYd-YNT7rH6VJ3o92eoxToz6QwwWwyYIO0YKKm9U130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1043028.RAl6RqYd-YNT7rH6VJ3o92eoxToz6QwwWwyYIO0YKKm9U130_provenance.
• NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1043026.RAJK2icx_b5PbvuMArV_Ixpu9w2UhZl59p_jZ5hL4ulyE130_provenance.
• NP662186.RA8rmMBoERaIRf0Wdy3ByMfrCBuetNgXoTNa8DdIUfhjY130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP662186.RA8rmMBoERaIRf0Wdy3ByMfrCBuetNgXoTNa8DdIUfhjY130_provenance.
• NP1043025.RA9BCWyxeh_OTjsTEO-CAQWQoHkuy7KHQU7vo7qmxGflQ130_assertion description "[We describe a patient with a longstanding history of hypertrophic neuropathy of Dejerine-Sottas type, ultimately diagnosed with CMT1E disease due to a new p.Leu18Arg missense mutation in the first transmembrane domain of the PMP22 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1043025.RA9BCWyxeh_OTjsTEO-CAQWQoHkuy7KHQU7vo7qmxGflQ130_provenance.