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Search for people relevant for "Fragile X tremor/ataxia syndrome (FXTAS)"
Fragile X tremor/ataxia syndrome (FXTAS)
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Estrella López-Martín
Person without affiliation with CUNI
1 publication
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publication
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 |
Second Faculty of Medicine
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