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Genomic findings
| Gene | Genomic location | HGVS cDNA | HGVS protein | Zygosity | Predicted/observed effect | dbSNP ID |
|---|---|---|---|---|---|---|
| LSM1 | Chr 8: 38169798 (GRCh38) Chr 8: 38027316 (GRCh37) |
c.231+4A>C | Not applicable | Homozygous | Affects splicing/loss of canonical isoform expression | rs775468919 |
