Associated Papers
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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
Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.
Gijselinck I et al.
Human Mutation, 2008
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS et al.
American Journal of Human Genetics, 1999
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