Varaico: Literature-Extracted Genetic Variants

Gene:PIP5K1A
Variant:p.R509C
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PIP5K1A

NM_001135638.2:p.R509C

Associated Papers

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Efficiency in the UK Genomic Medicine Service.

Seaby EG et al.

Healthcare (basel, Switzerland), 2023

38132069 (PubMed )
Supplement: healthcare-11-03179-s001.zip › healthcare-2730148-supplementary.xlsx › Table_S2

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Seaby EG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36778464 (PubMed )
Supplement: media-1.xlsx › Table_2
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