Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R137_V138Splc
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PITX2

NM_000325.6:p.R137_V138Splc

Associated Papers

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Reis LM et al.

Progress in Retinal and Eye Research, 2024

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Scocchia A et al.

Orphanet Journal of Rare Diseases, 2021

34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants

Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.

Zhang Y et al.

Frontiers in Genetics, 2021

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

Wang X et al.

Current Eye Research, 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."