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Clinical Exome case
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创建时间：
2020-08-21
相关数据集
Additional file 1 of Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Additional file 1. Supplementary Tables (Tables S1-S14).
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Whole exome sequencing of SMG9 deficiency patients
Genomic DNA was extracted and captured to creat the library for whole exome sequencing by Agilent SureSelect Clinical Research Exome
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Data_Sheet_1_Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.zip
Nagashima-type palmoplantar keratoderma (NPPK) is characterized by non-progressive, diffuse, and cross-gradient hyperkeratosis caused by mutations in the SERPINB7 gene on chromosome 18q21.33. Chromoso
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Supplementary Material for: Prader Willi Syndrome diagnosis in adulthood: a case report
The Prader-Willi Syndrome is a rare complex multisystem genetic disorder characterized by neonatal hypotonia and feeding difficulties in early infancy, cognitive impairment, psychiatric disease and mu
DataCite Commons2025-07-28 更新40
Whole exon sequencing
Whole exome sequencing was performed on a patient presenting with short stature and a distinctive facial appearance to search for the etiology of short stature.
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