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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITX3

Variant:p.A271del1

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PITX3

NM_005029.4:p.A271del1

hg38:chr10:102230609 TGGC>T

Associated Papers

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Fan Q et al.

Bmc Medical Genetics, 2019

30894134 (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."