Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.L2504P
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NF1

NM_001042492.3:p.L2504P

Associated Papers

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

Kabahuma RI et al.

International Journal of Pediatric Otorhinolaryngology, 2011

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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."