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Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63854Source: DataRank Database

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy is a research paper published in American Journal of Medical Genetics Part A (2024). On theSindex it has a DataRank of 0.

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Enrichment:Funding (3 grants)Impact (FWCI 0.00)OA: greenTopics (35)IDs (PubMed, PMC, OpenAlex)Annotations (2)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (11)

Daniel Wegner ORCID,Jennifer Wambach ORCID,Kathleen Sisco,Stephen Stone ORCID,Jonathan H. Sheehan ORCID

Live enrichment

PubMed:39166407 PMC:PMC12358058 OpenAlex:https://openalex.org/W4401728006

NINDS NIH HHS

Grant: U01 NS134354

NHGRI NIH HHS

Grant: U01 HG010215

NCRR NIH HHS

Grant: P41 RR001081

FWCI

0.00

Citation Percentile

0.1%

greenLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12358058/pdf/nihms-2098281.pdf

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63854

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12358058

journalhttps://doi.org/10.1002/ajmg.a.63854

Fields of Study

Protein Tyrosine PhosphatasesMelanoma and MAPK PathwaysRNA regulation and disease

MeSH Terms

Exome SequencingAdolescentAdultChildChild, PreschoolEctodermal DysplasiaFailure to ThriveFemaleHeart Defects, CongenitalHumansInfantMaleMutationPhenotypeFaciesAmino Acid SubstitutionMAP Kinase Kinase 1Young Adult

Keywords

Costello syndromePhenotypeNoonan syndromeBiologyGeneticsProtein kinase AExome sequencingKinaseMAPK/ERK pathwayMutationGeneMap2k1RasopathyCardio‐facio‐cutaneous (Cfc) Syndrome

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy

FAIR Checklist

Authors (11)

Funding (3 grants)

Impact

Open Access

Topics

Annotations (Europe PMC)