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: APC: G53R; rs1191165645

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Clinical genomic profiling of novel grey zone lymphoma paired lesions with sequential central nervous system involvement in two adolescent patients.

Haematologica

Benkli, Cagla Y CY; Marcogliese, Andrea N AN; Agrusa, Jennifer E JE; Adesina, Adekunle M AM; Weiner, Howard L HL; Fisher, Kevin E KE; Curry, Choladda V CV

Publication Date: 2021-09-01

Variant appearance in text: APC: 157G>A; G53R

PubMed Link: 34162180

Variant Present in the following documents:

• Main text
• 1062533.pdf

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Snf1/AMPK is involved in the mitotic spindle alignment in Saccharomyces cerevisiae.

Scientific Reports

Tripodi, Farida F; Fraschini, Roberta R; Zocchi, Monica M; Reghellin, Veronica V; Coccetti, Paola P

Publication Date: 2018-04-11

Variant appearance in text: APC: G53R

PubMed Link: 29643469

Variant Present in the following documents:

• Main text
• 41598_2018_Article_24252.pdf

View BVdb publication page