Varaico: Literature-Extracted Genetic Variants

Gene:NRCAM
Variant:p.S519G
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NRCAM

NM_001037132.4:p.S519G

Associated Papers

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

Abreu-Silva RS et al.

Biochemical and Biophysical Research Communications, 2006

Mitochondrial deafness.

Fischel-Ghodsian N

Ear and Hearing, 2003

Mitochondrial defects and hearing loss.

Hutchin TP et al.

Cellular and Molecular Life Sciences : Cmls, 2000

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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."