Publications:

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: V316A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

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

Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ

Publication Date: 2019-03

Variant appearance in text: GLA: V316A

PubMed Link: 30093709

Variant Present in the following documents:

• Main text
• nihms-1505461.pdf

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