Varaico: Literature-Extracted Genetic Variants

Gene:ZNRF3
Variant:p.L104P
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ZNRF3

NM_001206998.2:p.L104P

Associated Papers

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Boonsawat P et al.

American Journal of Human Genetics, 2024

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."