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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.I2658_D2660delFs

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ALMS1

NM_001378454.1:p.I2658_D2660delFs

hg38:chr2:73489930 TATACCTG>T

Associated Papers

Syndromic ciliopathy: a taiwanese single-center study.

Pan YW et al.

Bmc Medical Genomics, 2024

38671463 (PubMed )

Supplement: 12920_2024_1880_MOESM2_ESM.pdf

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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."