Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: HEXA: 524A>C; Asp175Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: HEXA: 524A>C

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: HEXA: 524A>C; D175A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Tay-Sachs disease: a novel mutation from India.

Bmj Case Reports

Khera, Daisy D; John, Joseph J; Singh, Kuldeep K; Faruq, Mohammed M

Publication Date: 2018-12-13

Variant appearance in text: HEXA: D175A

PubMed Link: 30567231

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

Molecular Genetics And Metabolism Reports

Sheth, Jayesh J; Mistri, Mehul M; Datar, Chaitanya C; Kalane, Umesh U; Patil, Shekhar S; Kamate, Mahesh M; Shah, Harshuti H; Nampoothiri, Sheela S; Gupta, Sarita S; Sheth, Frenny F

Publication Date: 2014

Variant appearance in text: HEXA: 524A>C; D175A

PubMed Link: 27896118

Variant Present in the following documents:

• Main text
• main.pdf

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Molecular study of lysosomal storage disorders in India.

Molecular Cytogenetics

Sheth, Jayesh J

Publication Date: 2014

Variant appearance in text: HEXA: D175A

PubMed Link: 24940364

Variant Present in the following documents:

• 1755-8166-7-S1-I30.pdf

View BVdb publication page

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