Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.K104delFs
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OFD1

NM_003611.3:p.K104delFs

Associated Papers

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

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.

Romio L et al.

Journal of the American Society of Nephrology : Jasn, 2003

Identification of the gene for oral-facial-digital type I syndrome.

Ferrante MI et al.

American Journal of Human Genetics, 2001

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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."