Varaico: Literature-Extracted Genetic Variants

Gene:KLHL7
Variant:p.L341delFs
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KLHL7

NM_001031710.3:p.L341delFs

Associated Papers

New macular findings in individuals with biallelic KLHL7 gene mutation.

Heng LZ et al.

Bmj Open Ophthalmology, 2019

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius A et al.

American Journal of Human Genetics, 2016

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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."