Publications:

Fast searches of large collections of single-cell data using scfind.

Nature Methods

Lee, Jimmy Tsz Hang JTH; Patikas, Nikolaos N; Kiselev, Vladimir Yu VY; Hemberg, Martin M

Publication Date: 2021-03

Variant appearance in text: rs104894368

PubMed Link: 33649586

Variant Present in the following documents:

• Main text
• EMS114922.pdf

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Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

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

van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH

Publication Date: 2020-11

Variant appearance in text: rs104894368

PubMed Link: 32665702

Variant Present in the following documents:

• Main text

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Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Plos Genetics

Manivannan, Sathiya N SN; Darouich, Sihem S; Masmoudi, Aida A; Gordon, David D; Zender, Gloria G; Han, Zhe Z; Fitzgerald-Butt, Sara S; White, Peter P; McBride, Kim L KL; Kharrat, Maher M; Garg, Vidu V

Publication Date: 2020-05

Variant appearance in text: MYL2: E22*

PubMed Link: 32453731

Variant Present in the following documents:

• Main text
• pgen.1008639.pdf

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