Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.R606Fs
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PNPLA6

NM_001166111.2:p.R606Fs

Associated Papers

Novel variants in PNPLA6 causing syndromic retinal dystrophy.

Wu S et al.

Experimental Eye Research, 2021

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Yoon G et al.

Neurogenetics, 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."