Varaico: Literature-Extracted Genetic Variants

Gene:OFD1
Variant:p.Q416fs
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OFD1

NM_003611.3:p.Q416fs

Associated Papers

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.

Fujita A et al.

Neurology, 2019

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1
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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."