Publications:

[Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal Of Peking University. Health Sciences

Liu, X Z XZ; Li, Y Y YY; Yang, L P LP

Publication Date: 2020-10-18

Variant appearance in text: ABCA4: 2909C>T; T970I

PubMed Link: 33047716

Variant Present in the following documents:

• Main text

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A novel statistical method for interpreting the pathogenicity of rare variants.

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

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: T970I

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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