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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITX2

Variant:p.Q31_A34delFs

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PITX2

NM_000325.6:p.Q31_A34delFs

hg38:chr4:110622358 TGGCTAACGGC>T

Associated Papers

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Tümer Z et al.

European Journal of Human Genetics : Ejhg, 2009

19513095 (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."