Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.Y450H
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MCOLN1

NM_020533.3:p.Y450H

Associated Papers

Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing.

Sun Y et al.

Frontiers in Genetics, 2024

38818042 (PubMed )
Supplement: Table3.XLSX › Sheet1

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
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