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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NHLRC2

Variant:p.L97_D99del3

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NHLRC2

NM_198514.4:p.L97_D99del3

hg38:chr10:113858637 ATTGCCTGAT>A

Associated Papers

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Sczakiel HL et al.

European Journal of Human Genetics : Ejhg, 2023

37188825 (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."