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Article

Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.

American journal of medical genetics. Part A - 1 Oct 2024

Wade Emma M, Morgan Tim, Gimenez Gregory, Jenkins Zandra A, Titheradge Hannah, O'Donnell Marie, Skidmore David, Suri Mohnish, Robertson Stephen P

Abstract excerpt

Pathogenic variants in FLNA cause a diversity of X-linked developmental disorders associated with either preserved or diminished levels of filamin A protein and are conceptualized dichotomously as relating to underlying gain- or loss-of-function pathogenic mechanisms. Hemizygosity for germline deletions or truncating variants in FLNA is generally considered to result in embryonic lethality. Structurally, filamin...

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Source

Identifiers

PMID: 38853608
DOI: 10.1002/ajmg.a.63779

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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