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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KLHL7

Variant:p.T458P

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KLHL7

NM_001031710.3:p.T458P

hg38:chr7:23168030 A>C

Associated Papers

Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report.

Lugo-Merly A et al.

International Medical Case Reports Journal, 2022

36471740 (PubMed )

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