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A case of White–Sutton syndrome with previously described loss‐of‐function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome
Author(s) -
Dal Sameer,
Hopper Bruce,
Chattel Maureen Van Rossum,
Goel Himanshu
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62042
Subject(s) - function (biology) , domain (mathematical analysis) , genetics , computational biology , biology , medicine , mathematics , mathematical analysis