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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC4A11

Variant:p.K345*

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SLC4A11

NM_001174090.2:p.K345*

hg38:chr20:3231374 T>A

Associated Papers

Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.

Aldave AJ et al.

Cornea, 2007

17667634 (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."