Varaico: Literature-Extracted Genetic Variants

Gene:CA4
Variant:p.A12T
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CA4

NM_000717.5:p.A12T

Associated Papers

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

de Bruijn SE et al.

American Journal of Human Genetics, 2020

33022222 (PubMed )
Supplement: mmc1.pdf

Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.

Tian Y et al.

Current Eye Research, 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."