Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.T279_E281delFs
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OFD1

NM_003611.3:p.T279_E281delFs

Associated Papers

OFD1: One gene, several disorders.

Pezzella N et al.

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

Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1.

Hinen HB et al.

Pediatric Dermatology, 2018

Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.

Iijima T et al.

Human Pathology, 2016

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."