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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFSD8

Variant:p.S240*

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MFSD8

NM_001371596.2:p.S240*

hg38:chr4:127938818 G>C

Associated Papers

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Abu Elasal M et al.

Genes, 2024

39062705 (PubMed )

Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1

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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."