Varaico: Literature-Extracted Genetic Variants

Gene:SMPX
Variant:p.K61R
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SMPX

NM_014332.3:p.K61R

Associated Papers

Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.

Zhuri D et al.

The Journal of International Advanced Otology, 2024

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308
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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."