Varaico: Literature-Extracted Genetic Variants

Gene:CLN6
Variant:p.F120_M122del0
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CLN6

NM_017882.3:p.F120_M122del0

Associated Papers

Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.

O'Neal M et al.

Pediatric Neurology, 2024

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
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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."