Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR1
Variant:p.R190delFs
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ANTXR1

NM_032208.3:p.R190delFs

Associated Papers

GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

Modafferi C et al.

Journal of Medical Genetics, 2025

Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review.

Balakrishnan S et al.

European Journal of Medical Genetics, 2024

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