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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

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Bibliographic Details
Published in:	Clinical genetics 2021-05, Vol.99 (5), p.740-741
Main Authors:	Baquedano‐Lobera, Irene, Romero‐Salas, Yolanda, Ros‐Arnal, Ignacio, Miramar‐Gallart, María Dolores, López‐Pisón, Javier, Corona‐Bellostas, Carolina, García‐Romero, Ruth
Format:	Article
Language:	English
Subjects:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Achalasia Child Esophageal Achalasia - diagnostic imaging Esophageal Achalasia - genetics Esophageal Achalasia - physiopathology Female Humans Intracellular Signaling Peptides and Proteins - genetics Syndrome
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