DHX37 c.1399C>G ;(p.L467V)

Variant ID: 12-125453089-G-C

NM_032656.3(DHX37):c.1399C>G;(p.L467V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.

Life (Basel, Switzerland)
de Oliveira, Felipe Rodrigues FR; Mazzola, Taís Nitsch TN; de Mello, Maricilda Palandi MP; Francese-Santos, Ana Paula AP; Lemos-Marini, Sofia Helena V de SHV; Maciel-Guerra, Andrea Trevas AT; Hiort, Olaf O; Werner, Ralf R; Guerra-Junior, Gil G; Fabbri-Scallet, Helena H
Publication Date: 2023-04-27

Variant appearance in text: DHX37: 1399C>G; Leu467Val
PubMed Link: 37240737
Variant Present in the following documents:
  • Main text
  • life-13-01093.pdf
View BVdb publication page



Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Human Genomics
Al Anazi, Abdulrahman H AH; Ammar, Ahmed S AS; Al-Hajj, Mahmoud M; Cyrus, Cyril C; Aljaafari, Danah D; Khoda, Iname I; Abdelfatah, Ahmed K AK; Alsulaiman, Abdullah A AA; Alanazi, Firas F; Alanazi, Rawan R; Gandla, Divya D; Lad, Hetal H; Barayan, Samar S; Keating, Brendan J BJ; Al-Ali, Amein K AK
Publication Date: 2022-12-20

Variant appearance in text: DHX37: 1399C>G; L467V; rs149331610
PubMed Link: 36539902
Variant Present in the following documents:
  • 40246_2022_444_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

American Journal Of Human Genetics
Paine, Ingrid I; Posey, Jennifer E JE; Grochowski, Christopher M CM; Jhangiani, Shalini N SN; Rosenheck, Sarah S; Kleyner, Robert R; Marmorale, Taylor T; Yoon, Margaret M; Wang, Kai K; Robison, Reid R; Cappuccio, Gerarda G; Pinelli, Michele M; Magli, Adriano A; Coban Akdemir, Zeynep Z; Hui, Joannie J; Yeung, Wai Lan WL; Wong, Bibiana K Y BKY; Ortega, Lucia L; Bekheirnia, Mir Reza MR; Bierhals, Tatjana T; Hempel, Maja M; Johannsen, Jessika J; Santer, René R; Aktas, Dilek D; Alikasifoglu, Mehmet M; Bozdogan, Sevcan S; Aydin, Hatip H; Karaca, Ender E; Bayram, Yavuz Y; Ityel, Hadas H; Dorschner, Michael M; White, Janson J JJ; Wilichowski, Ekkehard E; Wortmann, Saskia B SB; Casella, Erasmo B EB; Kitajima, Joao Paulo JP; Kok, Fernando F; Monteiro, Fabiola F; Muzny, Donna M DM; Bamshad, Michael M; Gibbs, Richard A RA; Sutton, V Reid VR; , ; Van Esch, Hilde H; Brunetti-Pierri, Nicola N; Hildebrandt, Friedhelm F; Brautbar, Ariel A; Van den Veyver, Ignatia B IB; Glass, Ian I; Lessel, Davor D; Lyon, Gholson J GJ; Lupski, James R JR
Publication Date: 2019-08-01

Variant appearance in text: DHX37: 1399C>G; Leu467Val
PubMed Link: 31256877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: DHX37: L467V; rs149331610
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: DHX37: 1399C>G; L467V; rs149331610
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page