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Article

Rater reliability of fragile X mutation size estimates: a multilaboratory analysis.

American journal of medical genetics - 9 Aug 1996

Fisch G S, Carpenter N, Maddalena A, Tarleton J, Julien-Inalsingh C, Holden J J

Abstract excerpt

Notwithstanding the use of comparable molecular protocols, description and measurement of the fra(X) (fragile X) mutation may vary according to its appearance as a discrete band, smear, multiple bands, or mosaic. Estimation of mutation size may also differ from one laboratory to another. We report on the description of an mutation size estimate for a large sample of individuals tested for the fra(X) pre- or full...

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Identifiers

PMID: 8844073
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<319::AID-AJMG17>3.0.CO;2-I

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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