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Fig. 2 | Hereditas

Fig. 2

From: Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Fig. 2

Identification of a c.326G > A missense mutation in the G6PC gene. (a) Whole-exome sequencing identified a homozygous c.326G > A missense variant in exon 2 of the G6PC gene. (b) The amino acid 109 (marked by red color) affected by c.326G > A is highly conserved across different species. (c) Sanger sequencing on the pedigree showed that the father does not carry the c.326G > A missense variant and that the mother carries a heterozygous c.326G > A missense variant

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Hereditas

ISSN: 1601-5223

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