Publications:

Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only.

Frontiers In Cell And Developmental Biology

Machado, Renato Assis RA; Martelli-Junior, Hercílio H; Reis, Silvia Regina de Almeida SRA; Küchler, Erika Calvano EC; Scariot, Rafaela R; das Neves, Lucimara Teixeira LT; Coletta, Ricardo D RD

Publication Date: 2021

Variant appearance in text: rs130018

PubMed Link: 34307341

Variant Present in the following documents:

• Main text
• fcell-09-638522.pdf

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CREBBP: 1676+18A>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page