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UnknownHydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units.
Not available
S-EPMC3110554 | biostudies-literature
UnknownIdentification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay.
Not available
S-EPMC140306 | biostudies-literature
UnknownHuman Splicing Finder: an online bioinformatics tool to predict splicing signals.
Not available
S-EPMC2685110 | biostudies-literature
UnknownAssessment of the latest NGS enrichment capture methods in clinical context.
Not available
S-EPMC4750071 | biostudies-literature
UnknownLarge genomic rearrangements in the CFTR gene contribute to CBAVD.
Not available
S-EPMC1876208 | biostudies-literature
UnknownMeiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.
Not available
S-EPMC1288323 | biostudies-literature
UnknownDNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
Not available
S-EPMC3449075 | biostudies-literature
UnknownTargeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.
Not available
S-EPMC5206723 | biostudies-literature
UnknownFirst Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
Not available
S-EPMC7589424 | biostudies-literature
UnknownCitrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa.
Not available
S-EPMC11240819 | biostudies-literature
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