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UnknownGenome sequencing reveals the impact of pseudoexons in rare genetic disease.
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S-EPMC12501780 | biostudies-literature
UnknownA temperature-sensitive expression system based on the Geobacillus stearothermophilus NRS 2004/3a sgsE surface-layer gene promoter.
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S-EPMC4389859 | biostudies-literature
UnknownGenome sequencing reveals the impact of pseudoexons in rare genetic disease.
Not available
S-EPMC11703292 | biostudies-literature
UnknownMitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Not available
S-EPMC11703311 | biostudies-literature
UnknownMitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Not available
S-EPMC12278631 | biostudies-literature
UnknownIncreased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Not available
S-EPMC10524710 | biostudies-literature
UnknownIdentification of <i>de novo</i> variants from parent-proband duos via long-read sequencing.
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S-EPMC11888490 | biostudies-literature
UnknownPhosphorylation of the FACT histone chaperone subunit SPT16 affects chromatin at RNA polymerase II transcriptional start sites in Arabidopsis.
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S-EPMC9122599 | biostudies-literature
UnknownGenome-wide profiling of highly similar paralogous genes using HiFi sequencing.
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S-EPMC11890787 | biostudies-literature
UnknownThe peri-germ cell membrane: poorly characterized but key interface for plant reproduction.
Not available
S-EPMC12582372 | biostudies-literature
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