Open AccesseP185: A novel, milder case of CHEDDA syndrome caused by a de novo variant outside of the canonical HX-motif of ATN1
Author(s) -
Elizaveta Makarova,
Nicole Legro,
Ermal Aliu
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.221
Subject(s) - motif (music) , non canonical , medicine , genetics , computational biology , biology , physics , microbiology and biotechnology , acoustics
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