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Article

Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

1 Apr 2001

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 11370630
DOI: 10.1136/jmg.38.4.253

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Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndromePMID 11370630Read ↗

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Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variantsSemantic proximity Read ↗

Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.Semantic proximity Read ↗

Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutationSemantic proximity Read ↗

Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.Semantic proximity Read ↗

Genetic and functional studies of a germline TP53 splicing mutation in a Li–Fraumeni-like familySemantic proximity Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Semantic proximity Read ↗

Clinical management of TP53 mosaic variants found on germline genetic testingSemantic proximity Read ↗

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