Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.S463Y
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ALPL

NM_000478.6:p.S463Y

Associated Papers

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis.

Wang L et al.

Annals of Medicine, 2026

41457519 (PubMed )
Supplement: IANN_A_2606517_SM3961.xlsx › Sheet1

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.

Jiang M et al.

Acta Obstetricia Et Gynecologica Scandinavica, 2025

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Wei ML

Pigment Cell Research, 2006

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