Varaico: Literature-Extracted Genetic Variants

Gene:HELLS
Variant:p.M1T
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HELLS

NM_018063.5:p.M1T

Associated Papers

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Kaplanis J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
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