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A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure.
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2021-11-01 , DOI: 10.3343/alm.2021.41.6.604 Yoomi Yeo 1 , Jong Eun Park 2 , Hyuk Sung Kwon 3
中文翻译:
一个新的 TTN 基因变体 c.95136T>G (p.Cys31712Trp) 和疑似遗传性肌病伴早期呼吸衰竭家族的相关临床特征。
更新日期:2021-07-20
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2021-11-01 , DOI: 10.3343/alm.2021.41.6.604 Yoomi Yeo 1 , Jong Eun Park 2 , Hyuk Sung Kwon 3
Affiliation
中文翻译:
一个新的 TTN 基因变体 c.95136T>G (p.Cys31712Trp) 和疑似遗传性肌病伴早期呼吸衰竭家族的相关临床特征。