Varaico: Literature-Extracted Genetic Variants

Gene:SPARC
Variant:p.E22E
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SPARC

NM_003118.4:p.E22E

Associated Papers

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Li Q et al.

Bmc Medical Genomics, 2022

35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData

Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses.

Chen LJ et al.

Molecular Vision, 2010

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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."