Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.R256_Y262delFs
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P3H2

NM_018192.4:p.R256_Y262delFs

Associated Papers

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Gustafson J et al.

Case Reports in Genetics, 2022

ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.

van Bysterveldt KA et al.

Ophthalmic Genetics, 2017

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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."