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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAK

Variant:p.E256delFs

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MAK

NM_001242957.3:p.E256delFs

hg38:chr6:10801954 CT>C

Associated Papers

Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.

Yesharim L et al.

Molecular Biology Reports, 2025

41460542 (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."