Publications:

The ER membrane complex (EMC) can functionally replace the Oxa1 insertase in mitochondria.

Plos Biology

Güngör, Büsra B; Flohr, Tamara T; Garg, Sriram G SG; Herrmann, Johannes M JM

Publication Date: 2022-03

Variant appearance in text: HR: E77K

PubMed Link: 35231030

Variant Present in the following documents:

• pbio.3001380.pdf

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Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology

Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S

Publication Date: 2017

Variant appearance in text: HR: 229G>A

PubMed Link: 28590501

Variant Present in the following documents:

• 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: HR: E77K

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

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