Associated Papers
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6
Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.
Jiang N et al.
Frontiers in Neurology, 2023
DNA sequence polymorphism within the bovine adenosine monophosphate deaminase 1 (AMPD1) is associated with production traits in Chinese cattle.
Wei CB et al.
Genetics and Molecular Research : Gmr, 2015
The sarcomeric M-region: a molecular command center for diverse cellular processes.
Hu LY et al.
Biomed Research International, 2015
The molecular basis of skeletal muscle weakness in a mouse model of inflammatory myopathy.
Coley W et al.
Arthritis and Rheumatism, 2012
AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
Safranow K et al.
Journal of Applied Genetics, 2011
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.
Hanisch F et al.
Journal of Neurology, 2008
Haplotype analysis of human AMPD1 gene: origin of common mutant allele.
Toyama K et al.
Journal of Medical Genetics, 2004
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.
Morisaki H et al.
Human Mutation, 2000
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
Abe M et al.
Neuromuscular Disorders : Nmd, 2000
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