Varaico: Literature-Extracted Genetic Variants

Gene:INPPL1
Variant:p.P8_A13delFs
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INPPL1

NM_001567.4:p.P8_A13delFs

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

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Below JE 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."