Publications:

Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Asp778Asn

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 2332G>A; D778N

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal Of Translational Medicine

Lu, Chaoxia C; Wu, Wei W; Liu, Fang F; Yang, Kunqi K; Li, Jiacheng J; Liu, Yaping Y; Wang, Rongrong R; Si, Nuo N; Gao, Peng P; Liu, Yongtai Y; Zhang, Shuyang S; Zhang, Xue X

Publication Date: 2018-08-30

Variant appearance in text: MYH7: Asp778Asn

PubMed Link: 30165862

Variant Present in the following documents:

• Main text
• 12967_2018_Article_1605.pdf
• 12967_2018_1605_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page