Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.T100_S101Fs
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PITX2

NM_000325.6:p.T100_S101Fs

Associated Papers

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).

Park JE et al.

Annals of Laboratory Medicine, 2018

Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.

Yun JW et al.

Annals of Laboratory Medicine, 2013

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