Associated Papers
De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies.
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Hgg Advances, 2025
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Rossen JL et al.
Genes, 2023
36980880 (PubMed )
Supplement: genes-14-00608-s001.zip › genes-2190704-supplementary.pdf
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