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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX10

Variant:p.I203_H206delFs

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SOX10

NM_006941.4:p.I203_H206delFs

hg38:chr22:37977947 TGGGCCTGG>T

Associated Papers

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Sasaki A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2019

30786110 (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."