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Article

Insights into the pathogenicity of missense variants in the forkhead domain of FOX proteins underlying Mendelian disorders.

Human genetics - 1 Jul 2021

Bermúdez-Guzmán Luis, Veitia Reiner A

Abstract excerpt

Forkhead box (FOX) proteins are members of a conserved family of transcription factors. Pathogenic variants in FOX genes have been shown to be responsible for several human genetic diseases. Here, we have studied the molecular and structural features of germline pathogenic variants in seven FOX proteins involved in Mendelian disorders and compared them with those of variants present in the general population...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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PMID: 33638707
DOI: 10.1007/s00439-021-02267-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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