Associated Papers
Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.
Smith K et al.
American Journal of Medical Genetics. Part A, 2026
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene.
Batu Oto B et al.
Ophthalmic Genetics, 2023
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported
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