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Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene
Clinical Genetics ( IF 3.5 ) Pub Date : 2021-01-11 , DOI: 10.1111/cge.13914
Irene Baquedano-Lobera 1 , Yolanda Romero-Salas 2 , Ignacio Ros-Arnal 3 , María Dolores Miramar-Gallart 4 , Javier López-Pisón 5 , Carolina Corona-Bellostas 6 , Ruth García-Romero 3
Affiliation  



中文翻译:

贲门失弛缓症作为 MIRAGE 综合征的症状指南:SAMD9 基因中 p.R1293Q 和 p.R902W 变体的新病例

更新日期:2021-01-11
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