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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TIAM2

Variant:p.H178_N179delFs

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TIAM2

NM_012454.4:p.H178_N179delFs

hg38:chr6:155129754 CCACAA>C

Associated Papers

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.

Panagiotou ES et al.

Molecular Vision, 2022

35693420 (PubMed )

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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."