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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPATA7

Variant:p.S306P

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SPATA7

NM_018418.5:p.S306P

hg38:chr14:88429351 T>C

Associated Papers

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.

Button EL et al.

The Biochemical Journal, 2022

35730699 (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."