Varaico: Literature-Extracted Genetic Variants

Gene:SPHKAP
Variant:p.R518K
Back to variants list

SPHKAP

NM_001142644.2:p.R518K

Associated Papers

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

Encarnação M et al.

Genes, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."