Varaico: Literature-Extracted Genetic Variants

Gene:TWF1
Variant:p.P349S
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TWF1

NM_001242397.2:p.P349S

Associated Papers

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

Rainger J et al.

Human Mutation, 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."