Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R152C
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PITX2

NM_000325.6:p.R152C

Associated Papers

Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.

Su JY et al.

Elife, 2025

39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

35052368 (PubMed )
Supplement: genes-13-00027-s001.zip › genes-1495226-supplementary.pdf

Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.

Medina-Trillo C et al.

European Journal of Human Genetics : Ejhg, 2016

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