Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.P71_P73ins1
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FOXC1

NM_001453.3:p.P71_P73ins1

Associated Papers

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Wang R et al.

Bmc Medical Genomics, 2021

34809627 (PubMed )
Supplement: 12920_2021_1130_MOESM1_ESM.xlsx › ARS

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

Wu CW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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