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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SALL2

Variant:p.L11L

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SALL2

NM_001364564.1:p.L11L

hg38:chr14:21526095 G>A

Associated Papers

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Kelberman D et al.

Human Molecular Genetics, 2014

24412933 (PubMed )

Supplement: supp_ddt643_ddt643supp.docx

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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."