Publications:

Fighting the Cause of Alzheimer's and GNE Myopathy.

Frontiers In Neuroscience

Devi, Shreedarshanee S; Yadav, Rashmi R; Chanana, Pratibha P; Arya, Ranjana R

Publication Date: 2018

Variant appearance in text: PC: M743T

PubMed Link: 30374284

Variant Present in the following documents:

• Main text
• fnins-12-00669.pdf

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Limb-girdle Muscular Dystrophies in India: A Review.

Annals Of Indian Academy Of Neurology

Khadilkar, Satish V SV; Faldu, Hinaben Dayalal HD; Patil, Sarika Bapuso SB; Singh, Rakesh R

Publication Date: 2017

Variant appearance in text: PC: M743T

PubMed Link: 28615891

Variant Present in the following documents:

• AIAN-20-87.pdf

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The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation

Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL

Publication Date: 2016

Variant appearance in text: PC: 2228T>C; Met743Thr

PubMed Link: 27408750

Variant Present in the following documents:

View BVdb publication page