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Keyword [Splice Site]
Result: 1 - 14 | Page: 1 of 1
1.
Mutations Of The SEDL Gene In X-linked Spondyloepiphyseal Dysplasia Tarda
2.
Molecular Epidemiology Investigation Of Enlarged Vestibular Aqueduct Associated With SLC26A4 Gene
3.
Prediction Of Protein-coding Genes And Genetic Disease Relevant Genes
4.
One Novel5’Splice Site Mutation Of ACTC1Gene Might Play A Important Role In Ventricular Septal Defect (VSD)
5.
A Novel Splice Site Mutation In DFNA5 Gene Causing Autosomal Dominant Non-syndromic Hearing Loss
6.
Genetic Defect Analysis Of A Chinese Family With Congenital Afibrinogenemia
7.
The Analysis Of Data Mining Based On Inherited Disease Mutations
8.
Localization Of The Disease-associated Gene Of A Congenital Cataract Family
9.
Study On The Molecular Pathogenesis Of Hemophilia A Caused By Two Splice Site Mutations Of F8 And Hemophilia B Caused By Two Large Duplications Of F9
10.
Genetic Diagnosis Of Disorders Of Sex Development And Preliminary Molecular Pathogenesis Of Related Genes
11.
Genetic Analysis And Literature Review Of 6 Cases Of Hereditary Spherocytosis
12.
Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome
13.
A Research On The Pathogenic Mechanism Of A Family With Cleidocranial Dysplasia
14.
Non-classical Splice-site Splicing-disrupt Variants And Associated Gene Expression Patterns In Parkinson’s Disease
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