Varaico: Literature-Extracted Genetic Variants

Gene:FANCD2
Variant:p.L305S
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FANCD2

NM_001018115.3:p.L305S

Associated Papers

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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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."