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DeCS
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Descriptor English:
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Haploinsufficiency
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Descriptor Spanish:
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Haploinsuficiencia
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Descriptor Portuguese:
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Haploinsuficiência
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Synonyms English:
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Haploinsufficiencies
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Tree Number:
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G05.365.590.029.530.587
G05.380.350.500
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Definition English:
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A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. |
History Note English:
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2011
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Allowable Qualifiers English:
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Record Number:
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54332
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Unique Identifier:
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D057895
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Occurrence in VHL:
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Similar:
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DeCS
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