Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.Y238delFs
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OFD1

NM_003611.3:p.Y238delFs

Associated Papers

OFD1: One gene, several disorders.

Pezzella N et al.

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

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY et al.

European Journal of Human Genetics : Ejhg, 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

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Thauvin-Robinet C et al.

Journal of Medical Genetics, 2006

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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."