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Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1 | 429 |
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Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1 | 11 | 14 | 19 | 11 | 22 | 26 | 5 |
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Enlace a_Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis.htm | 228 |
Clinical Exome Sequencing Enables Congenital Sialidosis.pdf | 205 |
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