Varaico: Literature-Extracted Genetic Variants

Gene:HHLA1
Variant:p.G226Splc
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HHLA1

NM_001145095.3:p.G226Splc

Associated Papers

Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process.

Mahfood M et al.

Saudi Journal of Biological Sciences, 2021

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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."