Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS7
Variant:p.S1316T
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ADAMTS7

NM_014272.5:p.S1316T

Associated Papers

Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants.

Sun H et al.

Molecular Vision, 2025

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

Loss of human ICOSL results in combined immunodeficiency.

Roussel L et al.

The Journal of Experimental Medicine, 2018

30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate
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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."