Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.P149A
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BSCL2

NM_001122955.4:p.P149A

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG17

Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.

Wang Y et al.

Frontiers in Genetics, 2025

Role of Seipin in Human Diseases and Experimental Animal Models.

Li Y et al.

Biomolecules, 2022

A Novel, Heterozygous BSCL2 Variant in Association With Early-Onset Epileptic Encephalopathy.

Stanley NE et al.

Journal of Neuropathology and Experimental Neurology, 2022

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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."