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List of works by Claude Férec

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

scientific article published on 05 May 2020

Detection of over 98% cystic fibrosis mutations in a Celtic population

scientific article published on 01 June 1992

Gene Conversion in Evolution and Disease

article

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

scientific article

Gene conversion: mechanisms, evolution and human disease

scientific article

Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis

scientific article

Genomic rearrangements in inherited disease and cancer

scientific article published on 09 June 2010

Nation-wide investigation of RHD variants in Thai blood donors: Impact for molecular diagnostics

scientific article published on 29 December 2020

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia

scientific article published on 05 August 2020

The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency

scientific article published on 16 December 2020

Type of PKD1 Mutation Influences Renal Outcome in ADPKD ⬇️

scientific article published on February 21, 2013

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

scientific article published on 18 August 2013

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