Varaico: Literature-Extracted Genetic Variants

Gene:LIPE
Variant:p.D519N
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LIPE

NM_005357.4:p.D519N

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506

Identification of potentially damaging amino acid substitutions leading to human male infertility.

Kuzmin A et al.

Biology of Reproduction, 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."