Varaico: Literature-Extracted Genetic Variants

Gene:AP5Z1
Variant:p.G378R
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AP5Z1

NM_014855.3:p.G378R

Associated Papers

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Yahia A et al.

European Journal of Human Genetics : Ejhg, 2024

Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature.

Papoff FMA et al.

Neuropediatrics, 2024

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.

Guo QH et al.

Journal of Cellular and Molecular Medicine, 2017

28707430 (PubMed )
Supplement: JCMM-21-3626-s002.xlsx › Sheet1
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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."