Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.L301P
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INPP5E

NM_019892.6:p.L301P

Associated Papers

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Salfati EL et al.

Genome Medicine, 2019

31847883 (PubMed )
Supplement: 13073_2019_702_MOESM1_ESM.xlsx › Table_S3A

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.

Zwaveling-Soonawala N et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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