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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC9A1

Variant:p.N252D

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SLC9A1

NM_003047.5:p.N252D

hg38:chr1:27113885 T>C

Associated Papers

Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome.

Shaik NA et al.

Journal of Biomolecular Structure & Dynamics, 2020

31542996 (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."