Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.D231G
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PSAP

NM_002778.4:p.D231G

Associated Papers

Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Weggen S et al.

Alzheimer's Research & Therapy, 2012

Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease.

Kowalska A

Folia Neuropathologica, 2003

Transcription initiation-defective forms of sigma(54) that differ in ability To function with a heteroduplex DNA template.

Kelly MT et al.

Journal of Bacteriology, 2000

Mutant forms of Salmonella typhimurium sigma54 defective in transcription initiation but not promoter binding activity.

Kelly MT et al.

Journal of Bacteriology, 1999

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

Talvik I et al.

Child Neurology Open, 0

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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."