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Article

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.

The Journal of international medical research - 1 Apr 2020

Funk Christopher Ronald, Huey Elizabeth S, May Melanie M, Peng Yunhui, Michonova Ekaterina, Best Robert G, Schwartz Charles E, Blenda Anna V

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Share to Amino Acid Substitution
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

Share to MAP Kinase Kinase Kinases

Share to Mutation, Missense

Share to Protein Conformation

Share to Structure-Activity Relationship

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Identifiers

PMID: 32266845
DOI: 10.1177/0300060519879293
PMCID: PMC7144677

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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