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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHML

Variant:p.K528_L529delFs

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CHML

NM_001381853.1:p.K528_L529delFs

hg38:chr1:241634179 ATAAT>A

Associated Papers

Clinical and Genetic Findings in Korean Patients with Choroideremia.

Jo WG et al.

Korean Journal of Ophthalmology : Kjo, 2023

37336512 (PubMed )

Novel CHM mutations identified in Chinese families with Choroideremia.

Cai XB et al.

Scientific Reports, 2016

27739455 (PubMed )

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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."