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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAALADL2

Variant:p.N4delins

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NAALADL2

NM_207015.3:p.N4delins

hg38:chr3:174859416 GA>GA

Associated Papers

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract.

Jones JL et al.

European Journal of Human Genetics : Ejhg, 2021

33867527 (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."