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. 2017 Oct 26;18(4):227–235. doi: 10.1007/s10048-017-0526-4

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© The Author(s) 2017

Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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Fig. 2 — Segregation studies and missense residue conservation. a Familial pedigree and sequence data for Patient 1 and parents demonstrating recessive inheritance of compound heterozygous c.569G>A, p.(Arg190Gln) and c.636delA, p.(Glu213Argfs*3) GFM2 variants. b Familial pedigree and sequence data for Patient 2 and parents demonstrating recessive inheritance of a homozygous c.275A>C, p.(Tyr92Ser) GFM2 variant. Multiple sequence alignment of GFM2 reveals moderate evolutionary conservation of the p.Arg190 residue (c) and the p.Tyr92 residue is invariant (d) (both residues shown by an asterisk)