Symptom gene identification
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Investigating the molecular mechanisms of symptoms is a vital task in precision medicine to refine disease taxonomy and improve the personalized management of chronic diseases. Although there are abundant experimental studies and computational efforts to obtain the candidate genes of diseases, the identification of symptom genes is rarely addressed.
8p visteverogers 24-06-2023 9 2 Download
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The KRT5 p.E477K was strong associated with the very severe or lethal of generalized severe EBS (GS-EBS), characterized by the severe symptoms at birth, improving with age and evolution to palmoplantar keratoderma and nail dysplasia. Our finding will aid the molecular diagnosis, prognosis prediction of the patient with GS-EBS due to p.E477K and significant genetic counselling the family concerning the recurrence risk for future pregnancies.
6p spiritedaway36 25-11-2021 13 1 Download
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Mutations in minor spliceosome components such as U12 snRNA (cerebellar ataxia) and U4atac snRNA (microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)) result in tissue-specific symptoms.
19p visilicon2711 20-08-2021 15 1 Download
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Glycogen storage disease type Ia (GSD Ia), a rare autosomal inherited disorder, is characterized by accumulation of excessive glycogen and fat in the liver. Primary symptoms of GSD Ia include hypoglycemia; metabolic acidosis; elevated levels of lactate, uric acid and lipids; hepatomagaly and growth retardation. Glycogen storage disease type Ia was caused by mutations in the G6PC gene. In this study, mutations in a Vietnamese patient with glycogen storage disease type Ia were analyzed using the whole exome sequencing method. A missense mutation c.356A>T (p.
8p xilank_of 22-07-2020 13 1 Download
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Tomato leaf curl virus disease (ToLCVD) is one of the major causes for highest economical loss of tomato in India. In this study, Natural incidence of ToLCV disease on tomato was observed at Gujarat, India in the March, 2019. The infected plants revealed systemic viral symptoms in the form of sever leaf curling, leaf crumple with marginal yellowing, stem warped and stunted. Molecular methods were followed to further characterized coat protein (CP) gene of tomato leaf curl virus using specified primers.
11p trinhthamhodang3 12-02-2020 13 1 Download