Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.T1226R
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EXPH5

NM_001144763.2:p.T1226R

Associated Papers

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Mauri L et al.

Orphanet Journal of Rare Diseases, 2016

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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."