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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAA15

Variant:p.E47Splc

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NAA15

NM_057175.5:p.E47Splc

hg38:chr4:139334260 T>A

Associated Papers

Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.

Makwana R et al.

American Journal of Medical Genetics. Part A, 2025

39991982 (PubMed )

A Natural History of NAA15 -related Neurodevelopmental Disorder Through Adolescence.

Makwana R et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38712024 (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."