Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.K280delFs
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OFD1

NM_003611.3:p.K280delFs

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

OFD1: One gene, several disorders.

Pezzella N et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

The molecular basis of oral-facial-digital syndrome, type 1.

Macca M et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009

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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."