Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E95D
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MFAP1

NM_005926.3:p.E95D

Associated Papers

IMP dehydrogenase-linked retinitis pigmentosa.

Hedstrom L

Nucleosides, Nucleotides & Nucleic Acids, 2008

Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding.

Mortimer SE et al.

The Biochemical Journal, 2005

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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."