Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.T145S
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BEST1

NM_004183.4:p.T145S

Associated Papers

Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.

Oh JK et al.

Orphanet Journal of Rare Diseases, 2019

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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."