Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.M750T
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ELAC2

NM_018127.7:p.M750T

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Cafournet C et al.

Life (basel, Switzerland), 2023

The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).

McNerney ME et al.

British Journal of Haematology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."