Varaico: Literature-Extracted Genetic Variants

Gene:PRSS56
Variant:p.E84E
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PRSS56

NM_001195129.2:p.E84E

Associated Papers

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

Gal A et al.

American Journal of Human Genetics, 2011

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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."