Varaico: Literature-Extracted Genetic Variants

Gene:P4HTM
Variant:p.Q190_L193delFs
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P4HTM

NM_177939.3:p.Q190_L193delFs

Associated Papers

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.

Hay E et al.

European Journal of Human Genetics : Ejhg, 2021

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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."