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30.05.2019 · The diagnosis of Gabriele-de Vries syndrome is established in a proband who has one of the following on molecular genetic testing (see Table 1):.
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See Molecular Genetics for information on allelic variants detected in this gene. 3. Sequence analysis detects variants that are benign, likely benign, of ...
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30.05.2019 · Clinical characteristics: Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) ...
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Clinical resource with information about Gabriele de Vries syndrome and its clinical features, YY1, available genetic tests from US and labs around the ...
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Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small ...
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A portal to gene-specific content based on NCBI's RefSeq project, information from model organism databases, and links to other resources.<br />
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