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2024
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2023
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Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
Not available
S-EPMC9613870
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biostudies-literature
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Differences in patient characteristics, clinical practice and outcomes of cardiac implantable electric device therapy between Japan and the USA: a cross-sectional study using data from nationally representative administrative databases.
Not available
S-EPMC9843182
|
biostudies-literature
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A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Not available
S-EPMC7846782
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biostudies-literature
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Not available
S-EPMC6599023
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biostudies-literature
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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Not available
S-EPMC11023916
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biostudies-literature
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