Varaico: Literature-Extracted Genetic Variants

Gene:COL4A6
Variant:p.E44K
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COL4A6

NM_033641.4:p.E44K

Associated Papers

Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women.

Jamaluddin MFB et al.

Frontiers in Reproductive Health, 2023

Vitamin D as an effective treatment in human uterine leiomyomas independent of mediator complex subunit 12 mutation.

Corachán A et al.

Fertility and Sterility, 2021

Mediator Kinase Disruption in MED12-Mutant Uterine Fibroids From Hispanic Women of South Texas.

Park MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin.

Jamaluddin MFB et al.

Endocrinology, 2018

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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."