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Progressive microcephaly is caused by compound‐heterozygous mutations in QARS
Author(s) -
Waltl S.
Publication year - 2014
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.12457
Subject(s) - microcephaly , compound heterozygosity , mutation , genetics , atrophy , biology , medicine , gene
Mutations in QARS , encoding glutaminyl‐tRNA synthetase, cause progressive microcephaly, cerebral–cerebellar atrophy, and intractable seizures Zhang et al. (2014) The American Journal of Human Genetics;94(4):547–558.