Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.F215_L216insA
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PANK2

NM_001386393.1:p.F215_L216insA

Associated Papers

Clinical applications and implications of common and founder mutations in Indian subpopulations.

Ankala A et al.

Human Mutation, 2015

A diagnostic approach for cerebral palsy in the genomic era.

Lee RW et al.

Neuromolecular Medicine, 2014

Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.

Ankala A et al.

Muscle & Nerve, 2013

Panthotenate Kinase-Associated Neurodegeneration Has a Founder Mutation (c.215_216insa) in Indian Agrawal Patients.

Udani V et al.

Movement Disorders Clinical Practice, 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."