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Mitochondrial "dysmorphology" in variant classification.

Human genetics - 1 Jan 2022

Shamseldin Hanan E, Alhashem Amal, Tabarki Brahim, Abdulwahab Firdous, Hashem Mais, Sougrat Rachid, Alkuraya Fowzan S

Abstract excerpt

Mitochondrial disorders are challenging to diagnose. Exome sequencing has greatly enhanced the diagnostic precision of these disorders although interpreting variants of uncertain significance (VUS) remains a formidable obstacle. Whether specific mitochondrial morphological changes can aid in the classification of these variants is unknown. Here, we describe two families (four patients), each with a VUS in a gene...

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PMID: 34750646
DOI: 10.1007/s00439-021-02378-w

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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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