Human Genome Variation : Impact Factor & More
eISSN: 2054-345XpISSN: 2054-345X
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Key Metrics
CiteScore 
2.8
SJR
Q4Genetics
SNIP
0.63
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Topics Covered on Human Genome Variation
Human Genome Variation Journal Specifications
Indexed in the following public directories
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SJR
| Overview | |
| Publisher | SPRINGERNATURE |
| Language | English |
| Frequency | Continuous publication |
| Article Processing Charges | EUR 2490 | USD 2890 | GBP 2190 |
| Publication Time | 13 |
| Editorial Review Process | Anonymous peer review |
| General Details | |
| Language | English |
| Society/Institute/Sponsor | The Japan Society of Human Genetics |
| Frequency | Continuous publication |
| Publication Start Year | 2014 |
| Publisher URL | Visit website |
| Website URL | Visit website |
| Publication Details | |
| Editorial Review Detail | |
| Information for authors | |
| Author instructions | Visit website |
| Copyright Details | Visit website |
| Deposit Policy | Sherpa/Romeo |
| License type | CC BY-NC-ND |
| OA statement | Visit website |
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Recently Published Papers in Human Genome Variation
Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review.
- 4 May 2026
- Human genome variation
Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.
- 28 Apr 2026
- Human genome variation
Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.
- 23 Apr 2026
- Human genome variation
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.
- 14 Apr 2026
- Human genome variation
Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.
- 14 Apr 2026
- Human genome variation
ChatTogoVar: a TogoVar-based retrieval-augmented generation system for precise genomic variant interpretation.
- 9 Apr 2026
- Human genome variation
Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review.
- 4 May 2026
- Human genome variation
Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.
- 28 Apr 2026
- Human genome variation
Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.
- 23 Apr 2026
- Human genome variation
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.
- 14 Apr 2026
- Human genome variation
Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.
- 14 Apr 2026
- Human genome variation
ChatTogoVar: a TogoVar-based retrieval-augmented generation system for precise genomic variant interpretation.
- 9 Apr 2026
- Human genome variation
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