Varaico: Literature-Extracted Genetic Variants

Gene:ATP5MJ
Variant:p.P12R
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ATP5MJ

NM_004894.3:p.P12R

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › IPK1_het

The ATP Synthase Deficiency in Human Diseases.

Galber C et al.

Life (basel, Switzerland), 2021

[Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].

Baranowska E et al.

Postepy Biochemii, 2018

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