Varaico: Literature-Extracted Genetic Variants

Gene:GREB1L
Variant:p.C646R
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GREB1L

NM_001142966.3:p.C646R

Associated Papers

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.

Jolly A et al.

Hgg Advances, 2023

The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.

Kyei-Barffour I et al.

The Yale Journal of Biology and Medicine, 2021

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.

Jacquinet A et al.

Clinical Genetics, 2020

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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."