Publications:

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Plos One

Delio, Maria M; Patel, Kunjan K; Maslov, Alex A; Marion, Robert W RW; McDonald, Thomas V TV; Cadoff, Evan M EM; Golden, Aaron A; Greally, John M JM; Vijg, Jan J; Morrow, Bernice B; Montagna, Cristina C

Publication Date: 2015

Variant appearance in text: FBN1: G1334D; rs191989961

PubMed Link: 26214305

Variant Present in the following documents:

• Main text
• pone.0133742.pdf
• pone.0133742.s005.xlsx, sheet 1

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