Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.D334Splc
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EFEMP1

NM_001039348.3:p.D334Splc

Associated Papers

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M et al.

Genome Biology, 2016

27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM1_ESM.pdf

EFEMP1 is not associated with sporadic early onset drusen.

Sauer CG et al.

Ophthalmic 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."