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A C‐terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR ‐associated syndromic microphthalmia
Author(s) -
Schwaibold Eva Maria Christina,
Brugger Melanie,
Wagner Matias
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.14034
Subject(s) - microphthalmia , genetics , phenotype , terminal (telecommunication) , nonsense , biology , medicine , gene , computer science , telecommunications