Varaico: Literature-Extracted Genetic Variants

Gene:APAF1
Variant:p.C450W
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APAF1

NM_181861.2:p.C450W

Associated Papers

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

Spellicy CJ et al.

European Journal of Human Genetics : Ejhg, 2018

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Komlosi K et al.

Orphanet Journal of Rare Diseases, 2018

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."