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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPB41L1

Variant:p.C99Y

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EPB41L1

NM_012156.2:p.C99Y

hg38:chr20:36175669 G>A

Associated Papers

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.

Schaefer E et al.

Frontiers in Genetics, 2019

30761183 (PubMed )

Supplement: Data_Sheet_1.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."