Varaico: Literature-Extracted Genetic Variants

Gene:AHSG
Variant:p.K2*
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AHSG

NM_001622.4:p.K2*

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease).

Merdler-Rabinowicz R et al.

Pediatric Research, 2019

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Glentis S et al.

Frontiers in Genetics, 2019

31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_10

Type 1 collagen: Synthesis, structure and key functions in bone mineralization.

Selvaraj V et al.

Differentiation; Research in Biological Diversity, 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."