# Human Mutation

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/human-mutation/

## Facts

| Field | Value |
| --- | --- |
| Open Access | false |
| ISSN-L | 1059-7794 |
| ISSNs | 1059-7794,1098-1004 |
| OpenAlex ID | https://openalex.org/S98809561 |
| Publisher | Wiley |

## Journal papers

Showing 12 of 22.

- [Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening](https://scholariq.org/papers/cystic-fibrosis-a-worldwide-analysis-ofcftr-mutations-correlation-with-incidence/)
- [The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations](https://scholariq.org/papers/the-treat-nmd-dmd-global-database-analysis-of-more-than-7-000-duchenne-muscular/)
- [Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype](https://scholariq.org/papers/germline-mutations-in-the-von-hippel-lindau-disease-tumor-suppressor-gene/)
- [Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines](https://scholariq.org/papers/frequent-brg1-smarca4-inactivating-mutations-in-human-lung-cancer-cell-lines/)
- [A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats](https://scholariq.org/papers/a-pan-scp-e-scp-uropean-study-of-the-i-c9orf72-i-repeat-associated-with-scp-ftld/)
- [Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub>channel subunits Kir6.2 (<i>KCNJ11</i>) and sulfonylurea receptor 1 (<i>ABCC8</i>) in diabetes mellitus and hyperinsulinism](https://scholariq.org/papers/update-of-mutations-in-the-genes-encoding-the-pancreatic-beta-cell-k-sub-atp-sub/)
- [Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients](https://scholariq.org/papers/coffin-siris-syndrome-and-the-baf-complex-genotype-phenotype-study-in-63/)
- [Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)](https://scholariq.org/papers/multiple-osteochondromas-mutation-update-and-description-of-the-multiple/)
- [Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease](https://scholariq.org/papers/position-of-nonmuscle-myosin-heavy-chain-iia-nmmhc-iia-mutations-predicts-the/)
- [Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients](https://scholariq.org/papers/autosomal-dominant-polycystic-kidney-disease-comprehensive-mutation-analysis-of/)
- [Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome](https://scholariq.org/papers/mutational-functional-and-expression-studies-of-the-i-tcf4-i-gene-in-pitt/)
- [Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC](https://scholariq.org/papers/mutations-of-the-vhl-gene-in-sporadic-renal-cell-carcinoma-definition-of-a-risk/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.