Varaico: Literature-Extracted Genetic Variants

Gene:PITX3
Variant:p.E103K
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PITX3

NM_005029.4:p.E103K

Associated Papers

Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Dai J et al.

Journal for Immunotherapy of Cancer, 2023

36593066 (PubMed )
Supplement: jitc-2022-005937supp007.xls › Supplemental_Table_3

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

Reis LM et al.

Human Genetics, 2019

Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Anand D et al.

Human Mutation, 2018

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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."