Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.*525delFs
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ALPL

NM_000478.6:p.*525delFs

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

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.

Rouleau C et al.

Bone Reports, 2022

35252483 (PubMed )
Supplement: mmc1.xlsx › Feuil1
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