A homozygous loss of function variant in POPDC3 : from invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype
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Neuromuscular disorders - ISSN 0960-8966-33:5 (2023) p. 432-439
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Genetics in medicine - ISSN 1098-3600-25:4 (2023) p. 1-15
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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Human genomics - ISSN 1479-7364-17:1 (2023) p. 1-9