Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.P1315S
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GLI2

NM_005270.5:p.P1315S

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.

Bardakjian T et al.

American Journal of Ophthalmology Case Reports, 2017

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