Varaico: Literature-Extracted Genetic Variants

Gene:GDF3
Variant:p.S212L
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GDF3

NM_020634.3:p.S212L

Associated Papers

Human Genetics of Ventricular Septal Defect.

Perrot A et al.

Advances in Experimental Medicine and Biology, 2024

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM4_ESM.xlsx › Sheet1

Functional and In Silico Assessment of GDF3 Gene Variants in a Chinese Congenital Scoliosis Population.

Chen J et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

A novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs.

Xiao J et al.

Cardiology in the Young, 2015

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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."