Varaico: Literature-Extracted Genetic Variants

Gene:PAPPA2
Variant:p.D643insFs
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PAPPA2

NM_020318.3:p.D643insFs

Associated Papers

Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease.

Barrios V et al.

Cells, 2021

Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects.

Fujimoto M et al.

Molecular and Cellular Endocrinology, 2020

One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology.

Argente J et al.

Embo Molecular Medicine, 2017

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability.

Dauber A et al.

Embo Molecular Medicine, 2016

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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."