Associated Papers
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A et al.
Orphanet Journal of Rare Diseases, 2018
29615062 (PubMed )
Supplement: 13023_2018_788_MOESM2_ESM.xlsx › WES_variants
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 19.19
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