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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPAL2

Variant:p.V99delFs

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NIPAL2

NM_001321635.2:p.V99delFs

hg38:chr8:98252542 CA>C

Associated Papers

Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.

Yang CF et al.

American Journal of Human Genetics, 2018

29336782 (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."