Varaico: Literature-Extracted Genetic Variants

Gene:SPP1
Variant:p.D94D
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SPP1

NM_001040058.2:p.D94D

Associated Papers

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Osteopontin splice variants and polymorphisms in cancer progression and prognosis.

Briones-Orta MA et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2017

The impact of osteopontin gene variations on multiple sclerosis development and progression.

Comi C et al.

Clinical & Developmental Immunology, 2012

Osteopontin gene haplotypes correlate with multiple sclerosis development and progression.

Chiocchetti A et al.

Journal of Neuroimmunology, 2005

Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus.

D'Alfonso S et al.

Arthritis and Rheumatism, 2005

High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation.

Chiocchetti A et al.

Blood, 2004

The osteopontin gene +1239A/C single nucleotide polymorphism is associated with type 1 diabetes mellitus in the Italian population.

Chiocchetti A et al.

International Journal of Immunopathology and Pharmacology, 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."