Publications:

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

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Publication Date: 2020-09

Variant appearance in text: GLA: 26delA; His9Leufs*112

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging.

Journal Of Magnetic Resonance Imaging : Jmri

Underhill, Hunter R HR; Golden-Grant, Katie K; Garrett, Lauren T LT; Uhrich, Stefanie S; Zielinski, Brandon A BA; Scott, C Ronald CR

Publication Date: 2015-12

Variant appearance in text: GLA: 26delA

PubMed Link: 26018987

Variant Present in the following documents:

• Main text

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