A novel homozygous splice site variant in <scp><i>CERS3</i></scp> causes autosomal recessive congenital ichthyosis
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- Hamadia Jan
- Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Islamabad Pakistan
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- Naveed Wasif
- Institute of Human Genetics Ulm University and Ulm University Medical Center Ulm Germany
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- Syed Kamran‐ul‐Hassan Naqvi
- Department of Biosciences COMSATS University Islamabad Islamabad Pakistan
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- Imran Ullah
- Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Islamabad Pakistan
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- Wasim Ahmad
- Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Islamabad Pakistan
収録刊行物
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- Congenital Anomalies
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Congenital Anomalies 63 (4), 127-128, 2023-05
Wiley