Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.D386D
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DHCR7

NM_001360.3:p.D386D

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Ueda A et al.

Plos One, 2022

35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf

Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.

Marquis-Nicholson R et al.

Gene, 2011

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