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Data · dataset · 2022

Supplemental Bioinformatics Data

Listed in DataCite

This dataset describes the bioinformatics evaluation of calcium sensing receptor variants that have been shown by functional studies to be inactivating (Table 1) or to behave as wild type (Table 2).

Description

The data reveals considerable inconsistencies in the assignment of pathogenicity using various bioinformatics databases substantiating the need to perform in vitro functional analysis in order to confidently determine pathogenicity.

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Topics

Inferred from text
Tabular 65%

Related

Provenance · 1 source records, 11 field assertions
SourceKeyLast seenRaw
DataCite10.6084/m9.figshare.1869975210 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · DataCiteconnector:datacite@1.0.0/data/attributes/rightsList
byte_sizesource · DataCiteconnector:datacite@1.0.0
concepts[field].fos:basic-medicinesource · DataCiteconnector:datacite@1.0.0
concepts[field].fos:clinical-medicinesource · DataCiteconnector:datacite@1.0.0
concepts[modality].local:modality:tabularenrichment · DataCitekeyword-concept-rules@1.0.0title+description (65%)
created_datesource · DataCiteconnector:datacite@1.0.0
descriptionsource · DataCiteconnector:datacite@1.0.0/data/attributes/descriptions
licensesource · DataCiteconnector:datacite@1.0.0/data/attributes/rightsList
publication_datesource · DataCiteconnector:datacite@1.0.0/data/attributes/dates
titlesource · DataCiteconnector:datacite@1.0.0/data/attributes/titles/0/title
updated_datesource · DataCiteconnector:datacite@1.0.0