Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.S48fs
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FOXC1

NM_001453.3:p.S48fs

Associated Papers

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.

Yin HF et al.

Journal of Zhejiang University. Science. B, 2014

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Reis LM et al.

European Journal of Human Genetics : Ejhg, 2012

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