Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.L315L
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EDNRB

NM_001122659.3:p.L315L

Associated Papers

Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.

Alehabib E et al.

International Journal of Pediatric Otorhinolaryngology, 2020

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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."