Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.S57S
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APP

NM_000484.4:p.S57S

Associated Papers

Mutations in BTD causing biotinidase deficiency.

Hymes J et al.

Human Mutation, 2001

Clinical and molecular genetics of the human GnRH receptor.

Karges B et al.

Human Reproduction Update, 0

Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism.

Ulloa-Aguirre A et al.

Human Reproduction Update, 0

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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."