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: PSEN1: S51C; rs1475323603

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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How Reliable Is the Ideal Adsorbed Solution Theory for the Estimation of Mixture Separation Selectivities in Microporous Crystalline Adsorbents?

Acs Omega

Krishna, Rajamani R; van Baten, Jasper M JM

Publication Date: 2021-06-15

Variant appearance in text: S182: S51c

PubMed Link: 34151128

Variant Present in the following documents:

• ao1c02136_si_001.pdf

View BVdb publication page