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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SSPN

Variant:p.P29_K30Fs

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SSPN

NM_005086.5:p.P29_K30Fs

hg38:chr12:26195757 CCGAA>ACT

Associated Papers

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Nashabat M et al.

Nature Communications, 2024

38413582 (PubMed )

Supplement: 41467_2024_45933_MOESM6_ESM.pdf

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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."