Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.S1197_V1198Splc
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NPC1

NM_000271.5:p.S1197_V1198Splc

Associated Papers

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Encarnação M et al.

Genes, 2023

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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."