Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA6
Variant:p.G1135D
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PNPLA6

NM_001166111.2:p.G1135D

Associated Papers

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.

Doğan M et al.

Ophthalmic Genetics, 2021

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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."