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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD1

Variant:p.W535*

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SMPD1

NM_000543.5:p.W535*

hg38:chr11:6394316 G>A

Associated Papers

Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.

Dong Y et al.

Pediatric Research, 2021

32289814 (PubMed )

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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."