Varaico: Literature-Extracted Genetic Variants

Gene:INPPL1
Variant:p.Y777*
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INPPL1

NM_001567.4:p.Y777*

Associated Papers

Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Abumansour IS et al.

Clinical Case Reports, 2021

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Ghosh S et al.

Human Mutation, 2017

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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."