A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
Background: Cohen syndrome (CS) is a clinically heterogeneous disorder characterized by extensive phenotypic variation with autosomal recessive inheritance. VPS13B was identified to be the disease-causing gene for CS. The objectives of the present study were to screen likely pathogenic mutations of...
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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-04-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |