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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NSRP1

Variant:p.E38_T39Splc

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NSRP1

NM_032141.4:p.E38_T39Splc

hg38:chr17:30118175 T>G

Associated Papers

A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.

Neuens S et al.

American Journal of Medical Genetics. Part A, 2024

38808951 (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."