Associated Papers
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li D et al.
Science Advances, 2021
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Hauer NN et al.
European Journal of Human Genetics : Ejhg, 2019
30809043 (PubMed )
Supplement: 41431_2019_362_MOESM2_ESM.xlsx › Combined_Scoring
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