Varaico: Literature-Extracted Genetic Variants

Gene:KCNH3
Variant:p.L878V
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KCNH3

NM_012284.3:p.L878V

Associated Papers

Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.

Guo X et al.

Molecular Medicine Reports, 2019

31322236 (PubMed )
Supplement: supplement_1.pdf
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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."