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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDLIM3

Variant:p.P10S

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PDLIM3

NM_014476.6:p.P10S

hg38:chr4:185535407 G>A

Associated Papers

Niemann-Pick type C disease: Case report and review of the literature.

Liu C et al.

Neuro Endocrinology Letters, 2023

37182232 (PubMed )

Niemann-Pick Disease: A Case Report and Literature Review.

Vélez Pinos PJ et al.

Cureus, 2023

36779112 (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."