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Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1528 - 1537
Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic... 
phenotypic expansion of Mendelizing disease traits | neurodevelopmental disorder | multilocus variation | distinct/overlapping blended phenotypes | personal genomes | DIAGNOSIS | DE-NOVO | PROTEIN | FAMILY | INDIVIDUALS | SPASTIC PARAPLEGIA | HYPOTONIA | GENETICS & HEREDITY | GPR126 | MUTATIONS | INHERITANCE | distinct | overlapping blended phenotypes
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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2018, Volume 115, Issue 16, pp. 4288 - 4293
Journal Article
General and Comparative Endocrinology, ISSN 0016-6480, 2014, Volume 206, pp. 227 - 234
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Environmental and Experimental Botany, ISSN 0098-8472, 04/2017, Volume 136, pp. 41 - 49
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