Varaico: Literature-Extracted Genetic Variants

Gene:PRPH
Variant:p.L361L
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PRPH

NM_006262.4:p.L361L

Associated Papers

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.

Corrado L et al.

Neurobiology of Aging, 2011

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.

Gros-Louis F et al.

The Journal of Biological Chemistry, 2004

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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."