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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
Author(s) -
BaquedanoLobera Irene,
RomeroSalas Yolanda,
RosArnal Ignacio,
MiramarGallart María Dolores,
LópezPisón Javier,
CoronaBellostas Carolina,
GarcíaRomero Ruth
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13914
Subject(s) - achalasia , medicine , gene , genetics , gastroenterology , biology , esophagus