Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: APOB: F3753L; rs61741974
High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.
American Journal Of Medical Genetics. Part A
Munabi, Naikhoba C O NCO; Mikhail, Shady S; Toubat, Omar O; Webb, Michelle M; Auslander, Allyn A; Sanchez-Lara, Pedro A PA; Manojlovic, Zarko Z; Schmidt, Ryan J RJ; Craig, David D; Magee, William P WP; Kumar, Subramanyan Ram SR
Publication Date: 2022-07
Variant appearance in text: APOB: 11257T>C; F3753L; rs61741974
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: APOB: 11257T>C; Phe3753Leu
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.
Vision Research
Ung, Cindy C; Sanchez, Angie V AV; Shen, Lishuang L; Davoudi, Samaneh S; Ahmadi, Tina T; Navarro-Gomez, Daniel D; Chen, Ching J CJ; Hancock, Heather H; Penman, Alan A; Hoadley, Suzanne S; Consugar, Mark M; Restrepo, Carlos C; Shah, Vinay A VA; Arboleda-Velasquez, Joseph F JF; Sobrin, Lucia L; Gai, Xiaowu X; Kim, Leo A LA
Publication Date: 2017-10
Variant appearance in text: APOB: F3753L; rs61741974