Varaico: Literature-Extracted Genetic Variants

Gene:AGMO
Variant:p.R396C
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AGMO

NM_001004320.2:p.R396C

Associated Papers

Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

Miao Y et al.

Molecular Genetics & Genomic Medicine, 2025

40985600 (PubMed )
Supplement: MGG3-13-e70135-s001.zip › Supplemental_Materials_2 › proband.xlsx › Sheet1

Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning.

Huang J et al.

Journal of Medical Genetics, 2019

30567904 (PubMed )
Supplement: jmedgenet-2018-105745supp001.pdf
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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."