Varaico: Literature-Extracted Genetic Variants

Gene:SMPD2
Variant:p.R152C
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SMPD2

NM_003080.3:p.R152C

Associated Papers

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

Tan M et al.

International Journal of Molecular Medicine, 2014

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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."