Title : Thrombocytosis in an infant with a TRPV4 mutation: a case report.

Pub. Date : 2021 Apr 3

PMID : 32319342






2 Functional Relationships(s)
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1 Mutations in the calcium channel gene Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. Calcium transient receptor potential cation channel subfamily V member 4 Homo sapiens
2 Mutations in the calcium channel gene Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. Calcium transient receptor potential cation channel subfamily V member 4 Homo sapiens