Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.G43E
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PSAP

NM_002778.4:p.G43E

Associated Papers

Polymorphisms of shadow of prion protein gene (SPRN) in Korean native cattle (Hanwoo) and Holstein cattle.

Kim YC et al.

Scientific Reports, 2020

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

27217339 (PubMed )
Supplement: aww111_supplementary_data.zip › brain-2015-01890-File009.pdf

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R et al.

Human Mutation, 2002

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