CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

Human Mutation

Volumn 35, Issue 7, 2014, Pages 828-840

  Scaini, Maria Chiara ^a   Minervini, Giovanni ^b   Elefanti, Lisa ^a   Ghiorzo, Paola ^c,d   Pastorino, Lorenza ^c,d   Tognazzo, Silvia ^a   Agata, Simona ^a   Quaggio, Monica ^b   Zullato, Daniela ^a   Bianchi Scarrà, Giovanna ^c,d   Montagna, Marco ^a   D'Andrea, Emma ^a,b   Menin, Chiara ^a   Tosatto, Silvio C E ^b  

^a VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

CDKN2A; Familial melanoma; P16INK4a; Variants of uncertain significance; VUS

Indexed keywords

AMINO ACID; CYCLIN DEPENDENT KINASE INHIBITOR 2A;

ALTERNATIVE RNA SPLICING; ARTICLE; COMPUTER MODEL; EXPRESSION VECTOR; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; HUMAN CELL; MELANOMA; MISSENSE MUTATION; MOLECULAR DYNAMICS; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; CELL PROLIFERATION; CHEMICAL STRUCTURE; GENETICS; METABOLISM; PROTEIN CONFORMATION; PROTEIN MOTIF; TUMOR CELL LINE;

AMINO ACID MOTIFS; AMINO ACID SUBSTITUTION; CELL LINE, TUMOR; CELL PROLIFERATION; CYCLIN-DEPENDENT KINASE INHIBITOR P16; GENETIC VARIATION; HUMANS; MELANOMA; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN CONFORMATION;

EID: 84902011183     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22550     Document Type: Article

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