Varaico: Literature-Extracted Genetic Variants

Gene:APAF1
Variant:p.N782T
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APAF1

NM_181861.2:p.N782T

Associated Papers

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

A sequencing-based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls.

Amin Z et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010

Variants in Apaf-1 segregating with major depression promote apoptosome function.

Harlan J et al.

Molecular Psychiatry, 2006

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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."