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. 2018 Dec 3;104(5):1484–1490. doi: 10.1210/jc.2018-02238

Figure 1.

Figure 1.

Sequencing chromatograms of the SGPL1 gene. (A) Sequence of a wild-type patient. (B) Sequence from patient ALS35.03 carrying the homozygous SGPL1 missense variant (c.665 G>A, p.R222Q).