Publications:

Selective Activation of the Wnt-Signaling Pathway as a Novel Therapy for the Treatment of Diabetic Retinopathy and Other Retinal Vascular Diseases.

Pharmaceutics

Nguyen, Huy H; Lee, Sung-Jin SJ; Li, Yang Y

Publication Date: 2022-11-16

Variant appearance in text: MFSD2A: M157V

PubMed Link: 36432666

Variant Present in the following documents:

• Main text

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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: rs764814462

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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