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List of works by Nicola K Poplawski

A model of care for familial hypercholesterolaemia: key role for clinical biochemistry ⬇️

scientific article published on February 1, 2012

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability

scientific article published on 03 June 2020

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

scientific article published on 19 February 2016

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility

scientific article published on 09 November 2020

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

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