Publications:

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: CALR: R162C; rs776958612

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Design, modeling, expression, and chemoselective PEGylation of a new nanosize cysteine analog of erythropoietin.

International Journal Of Nanomedicine

Cohan, Reza Ahangari RA; Madadkar-Sobhani, Armin A; Khanahmad, Hossein H; Roohvand, Farzin F; Aghasadeghi, Mohammad Reza MR; Hedayati, Mohammad Hossein MH; Barghi, Zahra Z; Ardestani, Mehdi Shafiee MS; Inanlou, Davoud Nouri DN; Norouzian, Dariush D

Publication Date: 2011

Variant appearance in text: SSA: R162C

PubMed Link: 21753873

Variant Present in the following documents:

• Main text
• ijn-6-1217.pdf

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