Publications:

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics

Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST

Publication Date: 2023-02-06

Variant appearance in text: CREBBP: 4134G>T

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM16_ESM.xlsx, sheet 1
• 41588_2022_1293_MOESM4_ESM.xlsx, sheet 1
• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 1
• 41588_2022_1293_MOESM16_ESM.xlsx, sheet 2

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Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family.

Frontiers In Genetics

Lin, Shaobin S; He, Zhiming Z; Huang, Linhuan L; Liu, Jialiu J; Lei, Ting T; Wu, Jianzhu J; Huang, Peizhi P; Zhou, Yi Y; Luo, Yanmin Y

Publication Date: 2021

Variant appearance in text: RSTS: 4134G>T

PubMed Link: 33747050

Variant Present in the following documents:

• Main text
• fgene-12-640992.pdf

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Benign and malignant tumors in Rubinstein-Taybi syndrome.

American Journal Of Medical Genetics. Part A

Boot, Max V MV; van Belzen, Martine J MJ; Overbeek, Lucy I LI; Hijmering, Nathalie N; Mendeville, Matias M; Waisfisz, Quinten Q; Wesseling, Pieter P; Hennekam, Raoul C RC; de Jong, Daphne D

Publication Date: 2018-03

Variant appearance in text: CREBBP: 4134G>T

PubMed Link: 29359884

Variant Present in the following documents:

• Main text
• AJMG-176-597.pdf

View BVdb publication page