ARTICLE
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doi:10.20944/preprints202307.1616.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
cystic fibrosis; cystic fibrosis transmembrane conductance regulator gene; CFTR; next generation sequencing; cystic fibrosis carriers
Online: 25 July 2023 (05:35:21 CEST)
CASE REPORT
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doi:10.20944/preprints202305.2038.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Familial hypercholesterolemia; Next Generation Sequencing; LDL-cholesterol; LDLR gene; Copy number variations (CNVs); Alu sequences
Online: 30 May 2023 (04:25:02 CEST)
CASE REPORT
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doi:10.20944/preprints202409.0406.v1
Subject:
Public Health And Healthcare,
Public Health And Health Services
Keywords:
G6PD Potenza; Sanger Sequencing; G6PD deficiency; RFLP; Italian population
Online: 5 September 2024 (08:20:55 CEST)