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Article

Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity.

Genomics - 1 Dec 2009

Chavali Sreenivas, Ghosh Saurabh, Bharadwaj Dwaipayan

Abstract excerpt

Hemophilia B has been considered as a classical monogenic disorder with complete penetrance. Here, we observed that its allelic spectrum encompasses mutations that show least phenotypic variation as well as those showing phenotypic plasticity, thereby establishing hemophilia B as a quasi-quantitative condition with variable expressivity. Thus, we relocate it from simple monogenic diseases with complete penetrance...

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Identifiers

PMID: 19699296
DOI: 10.1016/j.ygeno.2009.08.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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