SARAH ELSEA to Genetic Variation
This is a "connection" page, showing publications SARAH ELSEA has written about Genetic Variation.
Connection Strength
0.575
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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis. Genet Med. 2020 09; 22(9):1560-1566.
Score: 0.404
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RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov; 42(11):820-8.
Score: 0.141
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Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations. Mol Genet Metab. 2022 Dec; 137(4):359-381.
Score: 0.030