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AIFM1

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X-linked disorders — X-chromosome inactivation analysis by Nanopore sequencing

1 article(s) in the watch · Bioinformatics & AI

Curated publications

8/10

Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrier

X-linked disorders — X-chromosome inactivation analysis by Nanopore sequencing

Bio23 June 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.

Geno'X · Genetic watch

Weekly review of the literature in constitutional genetics (new genes, mechanisms, syndromes, functional studies). Designed for medical biologists, geneticists, trainees and researchers who want to stay up to date without burning the midnight oil.

The summaries presented are original syntheses. Copyrighted abstracts are not reproduced verbatim — a direct link to the publication is always provided.

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