Publications:

Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.

Current Issues In Molecular Biology

Fazia, Teresa T; Marzanati, Daria D; Carotenuto, Anna Laura AL; Beecham, Ashley A; Hadjixenofontos, Athena A; McCauley, Jacob L JL; Saddi, Valeria V; Piras, Marialuisa M; Bernardinelli, Luisa L; Gentilini, Davide D

Publication Date: 2021-10-27

Variant appearance in text: rs11060036

PubMed Link: 34889895

Variant Present in the following documents:

• cimb-43-00125.pdf

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: GLT1D1: 540+786G>A; rs11060036

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page