Varaico: Literature-Extracted Genetic Variants

Gene:CILK1
Variant:p.G594W
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CILK1

NM_014920.5:p.G594W

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

37124138 (PubMed )
Supplement: mmc4.pdf
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