Varaico: Literature-Extracted Genetic Variants

Gene:INPPL1
Variant:p.F722I
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INPPL1

NM_001567.4:p.F722I

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

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Huber C et al.

American Journal of Human Genetics, 2013

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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."