Open AccessComputational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
Author(s) -
Umut Gerlevik,
Ceren Saygı,
Hakan Cangül,
Aslı Kutlu,
Erdal Fırat Çaralan,
Yasemin Topçu,
Nesrin Özören,
Osman Uğur Sezerman
Publication year - 2022
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0265400
Subject(s) - flna , filamin , missense mutation , genetics , sanger sequencing , biology , phenotype , monozygotic twin , transmission disequilibrium test , exome sequencing , mutation , gene , genotype , single nucleotide polymorphism , cytoskeleton , cell