Associated Papers
Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29790871 (PubMed )
Supplement: NIHMS940738-supplement-Table_S1.pdf
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.
Rafiullah R et al.
Journal of Neurogenetics, 0
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