Published in
Elsevier, Genetics in Medicine, 4(25), p. 100018, 2023
DOI: 10.1016/j.gim.2023.100018
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Journal article published in 2023 by
Anne-Sophie Denommé-Pichon 
,
Leslie Matalonga,
Elke de Boer,
Adam Jackson,
Elisa Benetti,
Siddharth Banka,
Ange-Line Bruel,
Andrea Ciolfi,
Jill Clayton-Smith,
Bruno Dallapiccola,
Yannis Duffourd,
Kornelia Ellwanger,
Chiara Fallerini,
Christian Gilissen,
Holm Graessner
and other authors.
,
Leslie Matalonga,
Elke de Boer,
Adam Jackson,
Elisa Benetti,
Siddharth Banka,
Ange-Line Bruel,
Andrea Ciolfi,
Jill Clayton-Smith,
Bruno Dallapiccola,
Yannis Duffourd,
Kornelia Ellwanger,
Chiara Fallerini,
Christian Gilissen,
Holm Graessner
and other authors.
This paper was not found in any repository, but could be made available legally by the author.
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