Varaico: Literature-Extracted Genetic Variants

Gene:ASPH
Variant:p.F612L
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ASPH

NM_004318.4:p.F612L

Associated Papers

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.

Siggs OM et al.

Ophthalmic Genetics, 2019

30600741 (PubMed )
Supplement: supplement_1.pdf
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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."