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Article

Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation.

Journal of thrombosis and haemostasis : JTH - 1 Apr 2024

Zhang Huayang, Xin Min, Lin Liya, Chen Changming, Balestra Dario, Ding Qiulan

Abstract excerpt

BACKGROUND: The disease-causing effects of genetic variations often depend on their location within a gene. Exonic changes generally lead to alterations in protein production, secretion, activity, or clearance. However, owing to the overlap between proteins and splicing codes, missense variants can also affect messenger RNA splicing, thus adding a layer of complexity and influencing disease phenotypes....

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Source

Identifiers

PMID: 38184202
DOI: 10.1016/j.jtha.2023.12.031

Genes

F9

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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